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ETAS_11 hair nail

  1. 1. 11  Disorders of the Hair and Nails Ming H. Jih, MD, PhD C o n t e n t s 11.1 Hair Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 391 11.2 Hirsutism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 402 11.3 Hypertrichosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 405 11.4 Nails . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 405 Disorders of the Hair and Nails 389
  2. 2. Committed to Your Future For practice exam questions and interactive study tools, visit the Dermatology In-Review Online Practice Exam and Study System at by
  3. 3. 11.1  HAIR DISORDERSHair Anatomy Figure 11-1. Hair Follicle AnatomyHair Cycle Phase Duration Percent in Each Phase Anagen = growth phase 2-6 years 85-90% Catagen = transition phase 2-3 weeks <1% Telogen = resting phase “club hair” 3 months 10-15% ABBREVIATIONS AR: autosomal recessive AD: autosomal recessive EM: electronmicrograph MR: mental retardation Figure 11-2. Hair Mount Anatomy PPK: palmoplantar keratodermaHair Color Pheomelanin Eumelanin Blond hair, red hair Black hair Disorders of the Hair and Nails 391
  4. 4. Hair Shaft Abnormalities Pili Torti = Hair Twisted at Intervals of 90 to 360 Degrees • Acquired, isolated or inherited • Menke’s Kinky Hair syndrome  – X-linked recessive, ATP7A (MKN) gene – copper translocating membrane ATPase – Brittle “steel wool” hair (most common = pili torti but also can see trichorrhexis nodosa and monilethrix) – Cupid’s bow lips, pale, lax skin – MR, seizures – Tortuous arteries • Björnstad syndrome  – AR mutation is BCS1L gene (S. cerevisige bsc1, protein, a component of the inner mito chondrial membrane) – Pili torti + sensorineural deafness • Crandall’s syndrome – Pili torti + deafness + hypogonadism • Bazex’s Follicular Atrophoderma (Bazex-Dupre-Christol syndrome) – X-linked dominant – Hypotrichosis, follicular atrophoderma of dorsal hands and feet, face and extensor arms, hypohidrosis, multiple BCCs of face Figure 11-3. Pili Torti Trichorrhexis Nodosa = Frayed Ends Resembling “Broom-Stick” or “Paint Brush” • Acquired: Mechanical or chemical damage associated with trichoptilosis (split end) • Argininosuccinic aciduria – Absent argininosuccinase – Acidosis, low serum arginine, hyperammonemia – MR, red flourescence of hair • Citrullinemia – Absent arginosuccinic acid synthetase – Perioral and diaper dermatitis, pili torti • Menke’s kinky hair syndrome • Trichothidystrophy (see below) • Netherton’s syndrome (see below) Figure 11-4. Trichorrhexis Nodosa392  2011/2012 Dermatology In-Review l Committed to Your Future
  5. 5. Trichoschisis = Clean Transverse Fracture of the Hair Follicle • Acquired, mechanical or chemical • Trichothiodystrophy (Tay’s, PIBIDS = Photosensitivity, Icthyosis, Brittle hair, Intellectual impairment, Decreased fertility, Short stature)  – Nucleotide excision repair defect in DNA repair genes ERCC2/XPD and ERCC3/XPB – Brittle hair and nails (reduced content of cysteine-rich matrix proteins), ichthyosis – Trichoschisis, trichorrhexis nodosa, “tiger tail” hair under polarized light (alternating dark and light bands) – MR – 50% photosensitivity  •  Marinesco-Sjögren, AR, mutations in SIL1 (BAP) a nucleotide exchange factor of Hsp70 – Cerebellar ataxia, mental retardation – Bilateral congenital cataracts – Skeletal abnormalities (kyphoscoliosis, pes planovalgus) – Hypergonadotropic hypogonadism Figure 11-5. Trichoschisis Trichorrhexis Invaginata = Invagination of the Distal Hair Shaft into the Cup Formed by the Proximal Hair Shaft, “Ball and Socket” or “Bamboo Hair” • Netherton’s syndrome – Ichthyosis linearis circumflexa, atopy, trichorrhexis nodosa  – Mutation in SPINK5: serine protease inhibitor Figure 11-6. Trichorrhexis Invaginata Monilethrix = Elliptical Nodes at 0.7-1 mm Intervals, Hair Fractures at Nodes  • AD, mutations in hair keratins hHB6 and hHB1. AR, mutations in Desmoglein 4 (DSG4) • Short brittle hair, extensor keratosis pilaris, mental retardation, syndactyly, cataract, nail/ teeth abnormalities Figure 11-7. Monilethrix Disorders of the Hair and Nails 393
  6. 6. Pili Annulati = Alternating Light and Dark Bands Secondary to Air-space (seen in normal light versus “tiger-tail” hair of trichothiodystrophy, which is seen only under polarized light) • Pseudo-pili annulati: light reflection off periodic flattening of the hair shaft seen in blond hair Figure 11-8. Pili Annulati Trichoptilosis = “Split-ends” • Chemical or physical damage, associated with trichorrhexis nodosa Hair Cast • Retention and desquamation of segments of the inner root sheath, slides along length of hair (distinguish from nits from pediculosis capitis which are attached to hair and DO NOT slide along hair) • Young girls (2-8 yrs of age) Figure 11-9. Hair Cast Hair casts should be distinguished from: Piedra: Firmly adherent gritty nodules on hair. Black piedra caused by Piedraia hortae; white piedra caused by Trichosporon beigelii. Figure 11-10. Pediculosis: Nits are firmly adherent to one side of the hair shaft. Figure 11-11. Pohl Pinkus Constriction • Toxic insult → disruption of anagen cycle with thinning of hair shaft forming constrictions along hair, analogous to Beau’s lines in nailsUnruly Hair Uncombable Hair • AD/sporadic, silvery blond hair, “spun glass” appearance • Pili trianguli et canaliculi (triangular hair shaft with central longitudinal groove)394  2011/2012 Dermatology In-Review l Committed to Your Future
  7. 7. Woolly Hair • AD/AR, diffuse woolly hair or mixed straight and woolly hair • AR form can be caused by mutation in P2RY5 gene and is allelic to autosomal recessive localized hypotrichosis-3 (LAH-3) Naxos Syndrome  •  AR, mutation in plakoglobin • Woolly hair, diffuse PPK, right ventricular arrhythmogenic cardiomyopathy Autosomal Recessive Woolly Hair • Mutation in P2RY5 gene - G protein coupled receptor, nested gene within the retinoblastoma 1 gene • Diffuse scalp woolly hair with variable hypotrichosis or sparse hairSparse Hair/Alopecia Rothmund-Thomson Syndrome (Poikiloderma Congenitale)  •  AR, mutation in DNA helicase gene RECQL4 • Sparse scalp, eyebrow, and eyelash hairs • Poikiloderma in sun-exposed areas, dystrophic nail • Juvenile cataract • Hypogonadism • SCC, BCC, rare osteosarcoma Anhidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome)  • X-linked: mutation in EDA = ectodysplasin-A • Hypopigmented, fine, sparse hair with longitudinal grooves on EM • Hypohidrosis or anhidrosis, nail dystrophy, hypodontia or anodontia, peg/conical teeth • Periorbital pigmentation, frontal bossing, atopic dermatitis Hidrotic Ectodermal Dysplasia (Clouston Syndrome)  • AD, mutation in connexin 30 (gap junction protein) • Normal at birth then develops thin, sparse or complete loss of hair after puberty • PPK, dystrophic nail, hyperconvex nails, anonychia, paronychia KID Syndrome (Keratitis-Icthyosis-Deafness Syndrome)  • AD, mutation in connexin 26 • Keratitis, ichthyosis, deafness (sensorineural), alopecia Cronkhite-Canada Syndrome • Alopecia • Generalized pigmentation, onychodystrophy/nail atrophy • Malabsorption secondary to protein losing enteropathy, generalized gastrointestinal polyposis Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)  •  X-dominant, mutation NEMO (NF-kB Essential Modulator) • Scarring alopecia in 30% (usually vertex) • Progresses through 4 stages: vesicular → verrucous → hyperpigmented → hypopigmented in lines of Blaschko • Peg/conical teeth, eye (strabismus, cataract, blindness), MR, seizure, hemiatrophy Disorders of the Hair and Nails 395
  8. 8. Chondrodysplasis Punctata  •  utations: XR (arylsulfatase E), XD (EBP gene), AR (PEX 7, DHAPAT, alkyldihydro-aceto- M nephosphate synthase) • Scarring alopecia • Ichthyosis, follicular atrophoderma • Stippled epiphyses, cataract • Acquired: warfarin embryopathy Focal Dermal Hypoplasia (Goltz Syndrome, Syndactyly, “Lobster Claw Deformity”)  • X-dominant, mutation in PORCN, a regulator of Wnt signaling • Brittle alopecia • Fat herniation in Blaschko’s lines, congenital absence of skin • Absent/dystrophic nails • Osteopathia striata (radio-opaque longitudinal striations seen in long bones) Tricho-rhino-phalangeal Syndrome  • AD, mutations in TRPS1gene (putative zinc finger transcription factor) • Sparse, fine hair, thin nails, loose skin in infancy • Pear-shaped broad nose • Cone-shaped epiphyses Hay-Wells Syndrome (AEC: Ankyloblepharon-Ectodermal Dysplasia-Clefting)  •  Mutations in P63 • Wiry, sparse hair or alopecia • Ankyloblepharon, PPK, partial anhidrosis, cleft lip, palate, absent, dystrophic nails Rapp-Hodgkin Syndrome • TP73L (tumor protein 73-like gene alternatively known as P63) • Anhidrotic ectodermal dysplasia • Uncombable wiry hair with pili cannaliculi • Cleft lip with or without cleft palate, microosmia • Variable expression of single gene disorder with AEC or Hay-Wells syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC)  • Mutations in P63 • Light, sparse, wiry hair – longitudinal groove on EM • Partial anodontia, blue irides, photophobia, cleft lip +/– cleft palate, syndactyly, ectrodactyly • Genitourinary defects Trichodentoosseous Syndrome  • Mutations in the distal-less homeobox-3 gene (DLX3) • Curly hair that tends to straighten by 2nd or 3rd decade • Enamel hypoplasia, dental pits • Increased bone density Hallerman-Streiff Syndrome • Frontal scalp baldness – characteristic along skull suture lines • Bird-like face, microphthalmia, microagnathia, dystrophic teeth, malocclusion • Cataract, nystagmus, strabismus Cartilage-Hair Hypoplasia (McKusick’s Metaphyseal Dysplasia)  • AR, mutation in RMRP (RNA component of mitochondrial RNA-processing endoribonuclease)396  2011/2012 Dermatology In-Review l Committed to Your Future
  9. 9. • Fine, sparse hair, eyebrow, eyelashes • Decreased cell mediated immunity and natural killer cell activity, recurrent upper respiratory infections, increased viral infections (especially chicken pox) • Wide irregular metaphysisMarie-Unna Type Hypotrichosis • Sparse or absent hair, eyebrow and eyelash at birth with variable coarse wiry re-growth in childhood followed by loss at puberty • EM: longitudinal ridge, cuticle peeling • Diffuse follicular hyperkeratosisDermatopathia Pigmentosa Reticularis (DPR) • AD, mutation in keratin-14 gene • Triad of cutaneous reticulate hyperpigmentation, noncicatricial alopecia, onychodystrophy • Keratin-14 mutation is shared with Naegeli-Franseschetti-Jadassohn syndrome. Shared clinical features in both are adermatoglyphia, palmoplantar keratoderma and hypohidrosis. However, alopecia is only seen in DPR and dental abnormalities are seen in only Naegeli-Franceschetti-Jadassohn syndromeCostello Syndrome (Faciocutaneoskeletal Syndrome) • Mutation in HRAS gene • Thin anterior hair, curly hair • Nasolabial facial and perianal papillomas • Redundant and thickened skin around neck, palms, and soles • Congenital myopathy with excess muscle spindles • Coarse facies, short stature • Cardiac and developmental disabilityCardiofaciocutaneous Syndrome • Mutations in KRAS, BRAF, MEK1, MEK2 - all part of the common RAS/ERK pathway regulating cell proliferation, differentiation and apoptosis • Sparse friable hair, patchy hyperkeratosis or more generalized icthyosis • Heart defects (pulmonic stenosis, atrial septal defects) • Mental retardation and characteristic facies (high forehead with bitemporal constriction, antimongoloid slant of palpebral fissures, posteriorly angulated ears)Hypotrichosis Simplex of Scalp • Mutation in CDSN gene, encodes corneodesmosin • Normal hair at birth with progressive, gradual loss of scalp hair beginning at middle of the first decade to almost complete loss of scalp hair by third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Men and women are equally affectedHypotrichosis, Localized, AR Type 1 (LAH 2) • Mutation in desmoglein 4 • Fragile, breakable hair, short sparse scalp hair • Eyebrow and eyelash maybe involved • Axillary, pubic, beard largely sparedHypotrichosis, Localized, AR Type 2 (LAH 2) • Mutation in LIPH gene (Lipase H) • Congenital hypotrichosis of scalp hair Disorders of the Hair and Nails 397
  10. 10. • Wiry and twisted hair • Sparse eyebrow, eyelash, and body hair Hypotrichosis, Localized, AR Type 3 (LAH 3) • Mutation in P2RY5 gene (purinergic receptor P2Y) • Diffuse and progressive hair loss usually early childhood • Sparse eyebrow, lash, and body hairPremature Graying Progeria (Hutchinson-Gilford)  •  AR, mutation in laminin A (nuclear envelope protein) • Thin hair with premature graying • Bird-like face, early wrinkling, dyspigmentation, atrophy of skin, decreased subcutaneous fat • Atherosclerosis Werner Syndrome  •  Mutation in DNA helicase (RECQL2) • Thin, premature graying of hair • Skin: atropy, poikiloderma, scleroderma, hyperpigmentation • Atrophy of muscle, fat • Leg ulcer • Cataract • Increased cancers: fibrosarcoma, skin CALow-Set Hair Line Turner Syndrome  •  Chromosomal defect: XO (non-disjunction, mosaic) • Low posterior hair line, short, cubitus valgus, webbed neck, cutis laxa • Precocious puberty • Coarctation of aorta Noonan Syndrome  •  AD, mutation in PTPN11 (protein tyrosine phosphatase, nonreceptor-type 11) • Low-set posterior hair line, low set ears, cubitus valgus, webbed neck • Pulmonary stenosis Cornelia de Lange Syndrome  •  IPBL gene (component of cohesin complex), x-linked form caused by mutations in N SMC1L1 (component of cohesin complex) • Low set hair line, trichomegaly, synophrys (unibrow), hirsutism • Cutis marmorata • Severe MR • Characteristic facies, heart defect Klippel-Feil • Low posterior hairline, fused cervical vertebrae (faulty mesoderm somite segregation) • Strabismus, nystagmus, cleft palate, bifid uvulaPoliosis (Localized White Patch of Hair) Acquired • Vitiligo, alopecia areata398  2011/2012 Dermatology In-Review l Committed to Your Future
  11. 11. Waardenburg’s Syndrome • Depigmented patches on body, white forelock (50%), synophrys (70%), heterochromia irides (25%) • Type 1: AD, mutation in PAX 3 gene: dystopia canthorum (DC) • Type 2: AD, mutation in MITF (microphthalmia gene): No DC, + deafness • Type 3: AD, Klein-Waardenberg: mutation in PAX 3 gene: +axial limb defects • Type 4: AR, Waardenberg-Shah: mutation in SOX10, endothelin-3 ligand (EDN3), endothelin 3-receptor (EDNRB): + Hirschsprung Piebaldism  •  AD, mutations in c-KIT protooncogene (regulates melanoblast migration/proliferation) • White forelock • Depigmented patches central face, mid-extremities, abdomen (spares midline back) • Occasional Hirschsprung, MR, deafness, heterochromic irides Tuberous Sclerosis  •  Spontaneous mutation 75%, AD 25%, mutation in TSC 1 (hemartin), TSC 2 (tuberin) • Poliosis • Angiofibroma, hypopigmented ash leaf macules, shagreen patch (collgenoma), periungual fibromas (Koenen tumor), fibrous plaques, café-au-lait macules Vogt-Koyanagi-Harada (Poliosis, Uveitis, Deafness, Vitiligo) • Autoimmune reaction to uveal melanin • Prodrome of fever, headache, meningoencephalitis • Uveitis, vitiligo, poliosis, alopecia, deafnessAbnormal Hair Cycling Telogen Effluvium • 3-5 weeks after inciting stressful event there is shift from anagen to telogen • 2-3 months later release of telogen = club hair (“clumps of hair” falling out at once) • Endocrine (post-partum, thyroid disease) • Nutritional (kwashiorkor) • Drug (Coumadin, heparin, ACE inhibitors, beta blocker, lithium, oral contraceptives, retinoids), SSRI, amiodarone • Stress (illness, anemia, surgery) Anagen Effluvium = Sudden Loss of Anagen Hairs • Inhibition or arrest of cell division in the hair matrix leads to a thin, weakened hair that fractures • Radiation • Chemotherapy (anti-mitotic) • Mercury (contaminated seafood, antiseptic, fungicide) • Boric acid (insecticides) • Thallium (2-3 weeks post exposure, insomnia, irritabilitiy, CNS and PNS signs) • Severe protein malnutrition Loose Anagen • Loss of clumps of hair +/– unruly hair, hair pull shows anagen hair with “ruffled cuticle” Disorders of the Hair and Nails 399
  12. 12. Alopecia: Non-Scarring (see also sections 4-10 _ 4-11) Alopecia Areata • Localized, totalis (entire scalp), universalis (whole body) • Ophiasis: Band-like loss over periphery of scalp • Normal scalp, exclamation point hair (tapering of hair at proximal end), nail pits • Autoimmune disease (thyroid, vitiligo, diabetes, SLE, myasthenia gravis) • Biopsy: peribulbar, perivascular lymphohistiocytic infiltrate, “swarm of bees” • TX: ILTAC, topical steroid, systemic steroid, PUVA, topical immunotherapy (e.g., anthralin, diphenylcyclopropenone, squaric acid dibutyl ester), minoxidil, systemic cyclosporine, photodynamic therapy, Excimer laser • Phenomenon of hair “turning white overnight” from diffuse alopecia areata where mostly pigmented hairs are lost Triangular Alopecia • Congenital or childhood • Complete absence of hair or vellus hairs in triangular pattern in the temporal area, frequently bilateral Androgenetic Alopecia • AD, polygenetic with variable penetrance, progressive miniaturization of hair, increased telogen hairs • Males – bitemporal, vertex (Hamilton-Norwood classification) • Females – preserved anterior hair line, “christmas-tree” pattern with widened hair part at vertex (Ludwig classification) • Type II 5-alpha reductase activity in dermal papilla and outer root sheath • TX: minoxidil, finasteride, oral contraceptive pills, spironolactone, flutamide, cyproterone acetate, transplant Trichotillomania • Compulsive hair pulling, irregular broken hairs within a geometric localized area • Biopsy: Increased catagen hairs, trichomalacia, melanin in follicular canal • TX: chlormipramine, SSRI Traction Alopecia • Hair loss secondary to tight braids, hair style with traction • Frontal and parietal Woolly Hair Nevus • Isolated patch of woolly hair • 50% associated epidermal, verrucous or pigmented nevus • Eye: persistent papillary membrane or retinal abnormality Acquired Progressive Kinking • Post-pubescent male with androgenetic alopecia, gradual curling and darkening of frontal, temporal and auricular regions → progression to androgenetic alopecia • Associated with AIDS, retinoids Syphilis • Secondary syphilis, 3-7% occurrence rate • “Moth-eaten” – non-scarring with indistinct margins or diffuse alopecia Papular Atrichia  •  R, mutations in Hairless gene A400  2011/2012 Dermatology In-Review l Committed to Your Future
  13. 13. • Universal alopecia developing shortly after birth (approximately three months) • Normal eyelash, cornified cysts over face and neck • Few follicles with absent hair shafts Ichthyosis Follicularis, Atrichia, Photophobia (IFAP) • Absent eyebrows and eyelashes • Photophobia, punctate corneal scarring, keratoconjunctival inflammation, nystagmus, myopiaAlopecia: Scarring Table 11-1. Permanent Loss of Hair Follicles with Fibrosis Table 11-1a. Hereditary / Developmental / Unknown Etiology Aplasia cutis congenita Epidermal nevi Morphea Incontinentia pigmenti Focal dermal hypoplasia Icthyosis Darier’s Porokeratosis Chondodysplasia punctata DLE LPP PCT LS A Sarcoid Amyloid Follicular degeneration Pseudopelade of Brocq Dissecting cellulitis Cicatricial pemphigoid NLD Temporal arteritis Mastocytosis Folliculitis decalvans Follicular mucinosis Table 11-1b. Physical Causes Burn Trauma Radiation Tumors BCC SCC Melanoma Lymphoma Metastasis Adnexal tumors Table 11-1c. Infections Bacterial Fungal Leishmaniasis HSV Mycobacterial Pseudopelade of Brocq • Alopecia in small patches “foot prints in the snow” to large patches • Controversy regarding distinct entity versus end-stage of various scarring alopecias • Elastin stain shows persistent elastic fiber in mid-shaft of the follicle Follicular Degeneration Syndrome • Hair loss mostly on vertex in black females +/– history of chemical relaxers • Previously known as hot comb alopecia – but can occur without use of hot combs • Biopsy: premature desquamation of the inner root sheath with fibrosis Lichen Planopilaris • Alopecia with perifollicular erythema • Biopsy: Lymphohistiocytic infiltrate around the isthmus of the follicle associated with fibrosis and atrophy Disorders of the Hair and Nails 401
  14. 14. Morphea (en coup de sabre) • Linear morphea with linear scarring alopecia of the frontal scalp • Parry-Romberg syndrome (linear morphea, progressive facial hemiatrophy, exophthalmos) Folliculitis Decalvans • Inflammation, boggy induration, crust, pustules on scalp, tufted hair • Biopsy: Suppurative folliculitis with PMNs and eosinophils Dissecting Folliculitis (Perifolliculitis Capitis Abscedens et Suffodiens of Hoffman) • African American males • Deep inflammatory boggy nodules +/– sinus tracts on the occipital region • Biopsy: Follicular plugging, mixed cell inflammatory infiltrate, giant cells • Follicular occlusion tetrad: acne conglobata, hidradenitis, pilonidal cyst Acne Keloidalis Nuchae • African American male • Follicular papules and pustules → persistent firm papule or plaque at neck/occipital scalp Keratosis Follicularis Spinulosa Decalvans • Scarring alopecia, generalized keratosis pilaris Follicular Mucinosis • Alopecia/broken hairs on scalp, beard • Hypesthetic • Mucin in outer root sheath (cystic spaces) and sebaceous gland • Primary or secondary to CTCL Aplasia Cutis Congenita • Focal absence of epidermis +/– other layers of the skin • 85% scalp, 70% single lesion • Association with trisomy 13, Adams-Oliver syndrome Adams-Oliver Syndrome • Aplasia cutis congenita over posterior scalp • Terminal transverse defects of limbs, small toenails11.2  HIRSUTISM Hirsutism is the development of androgen-dependent terminal body hair (dark course pig-mented hair normally seen in the underarms, scalp, eyebrows and pubis) in a woman in areaswhere this type of hair is not normally found. The diagnosis of hirsutism is culturally determined, often. A woman’s definition of hirsutismdepends on her ethnic background. Other causes of hirsutism, described below, may require clini-cal intervention.Androgens in Women 1.) Dehydroepiandrosterone (DHEA): adrenal 2.) Androstenedione: adrenal, ovary 3.) Testosterone: ovary, adrenal, extraglandular conversion of androstenedione and dehydroepiandrosterone • Adrenal androgen regulated by adrenocorticotropin • Ovarian androgen regulated by luteinizing hormone402  2011/2012 Dermatology In-Review l Committed to Your Future
  15. 15. • Only testosterone and dihydrotestosterone bind the androgen receptor, thus adrenal androgens virilize only in so far as they serve as precursors for testosterone and dihydrotestosterone • Eyebrows, eyelashes, and vellus hair are not androgen-dependent, thus there is no difference between these areas of hair growth in men and women • The hair follicle requires conversion of testosterone to dihydrotestosterone for expression of androgen actionDrugs • Hirsutism without virilization/defeminization – Phenytoin – Minoxidil – Diazoxide – Cyclosporine – HexachlorobenzeneTumors • Rapid onset of hair growth with or without accompanying virilization – Adrenal adenomas and carcinomas – Arrhenoblastoma – Kruckenberg tumors of ovaryPolycystic Ovarian Disease (PCOS) • Most common cause of ovarian hyperandrogenism: 3-5% of women of reproductive age • Manifestations: Hirsutism, amenorrhea, virilization, obesity • Diagnosis: Chronic anovulation and hirsutism • Enlarged cystic ovaries, obesity, amenorrhea (Stein-Leventhal syndrome) need not be presentCongenital Adrenal Hyperplasia (CAH) • Defects in adrenal steroidogenesis • Can occur at any point in life, but affected girls will generally present around puberty with hirsutism and menstrual irregularity or primary amenorrhea • Excess androgen production is a key feature of most forms of congenital adrenal hyperplasia • Types of CAH 1.) 21-hydroxylase deficiency (95% of cases) 2.) 11 b-hydroxylase deficiency 3.) 3 b-hydroxysteroid dehydrogenase isomerase deficiencyIdiopathic Hirsutism • Women with evidence of androgen excess but with normal menses, normal-sized ovaries, no evidence of tumors of adrenal or ovary, and normal adrenal function • Slight elevations of plasma androstenedione and testosterone common Disorders of the Hair and Nails 403
  16. 16. Diagnosis Clinical History • Attention to drug ingestion • Details of pubertal development • Menstrual history Signs of Virilization Correlate with androgen overproduction from either an adrenal or ovarian source 1.) Deepening of the voice 2.) Temporal balding 3.) Clitoromegaly 4.) Increased muscle mass in the limb girdles 5.) Irregular or absent menses 6.) Acne Signs of Cortisol Excess 1.) Plethora 2.) Centripetal obesity 3.) Striae 4.) Dorsocervical/supraclavicular fat pads Laboratory Exam Suggestive of Neoplasm • DHEA 8000 ng/ml or serum testosterone 2 ng/ml Other Laboratory Tests and Evaluations • Plasma testosterone levels in the normal range are difficult to interpret because total levels in women do not necessarily reflect the free or unbound levels of hormone under conditions when testosterone-binding globulin levels are either increased or decreased • LH hypersecretion in PCOS • Prolactinemia may be seen in PCOS • Cushing syndrome, if suspected, should be evaluated with an overnight dexamethasone suppression test • Polycystic ovarian disease: diagnosis made from history and clinical features in a woman with chronic anovulation • Delayed onset adrenal hyperplasia by the short ACTH stimulation test and measurement of plasma 17-hydroxy-progesterone • Pelvic exam: search for palpable ovarian masses • Ultrasound imaging of the ovaries and adrenal glandsTreatment Eflornithine (Vaniqa) • Applied to the skin for the reduction of unwanted facial hair • Inhibits ornithine decarboxylase located in the root of the hair follicle Oral Contraceptives • Combination (estrogen and progesterone) oral contraceptives are indicated for women with idiopathic, familial hirsutism and PCOS • Women with hypertension, bleeding or clotting disorders, migraines, smokers, or a family history of breast and/or uterine cancer, should not use oral contraceptives to treat hirsutism • Effective in that they suppress the ovarian production of androgens404  2011/2012 Dermatology In-Review l Committed to Your Future
  17. 17. Glucophage - 0ther 0ral Hypoglycemics Used Primarily in the Treatment of Diabetes • May decrease insulin resistance and promote ovulation in women with PCOS • Not FDA-approved for this indication, nor appropriate for those who have kidney or liver disease Spironolactone • Synthetic steroid with an aldosterone-like structure • Blocks androgens from binding to their receptor reducing the effects of hirsutism • Spironolactone is not FDA-approved for the treatment of hirsutism • Teratogenic Finasteride (Propecia) • Not FDA-approved for the treatment of hirsutism, but shown to be effective Mechanical Hair Removal • Popular approach • Shaving, plucking, waxing, electrolysis, laser hair removal, bleaching, depilatories11.3  HYPERTRICHOSISGeneralized Congenital Hypertrichosis Lanuginosa • Silvery, blond and gray hair over entire body at birth or early infancy • AD with variable penetrance • Dental anomalies • Acquired: Fetal hydantoin and fetal alcohol syndromeAcquired Hypertrichosis Lanuginosa • Paraneoplastic 2 cancer (lung, colon, etc) lanugo hair face or entire bodyAmbras Syndrome • Thicker, longer hair increased on face, ears, shoulder, facial dysmorphism, dental anomaliesCongenital Generalized Hypertrichosis with Gingival Fibromatosis • AD, rare AR • Hypertrichosis (terminal hairs) on face and upper body, gingival hyperplasia/fibromatosisLocalized Congenital Hypertrichosis • Congenital nevi, Becker’s nevi • Hypertrichosis Cubiti – Bilateral elbows, unknown transmission • Cervical hypertrichosis – Posterior: X-link recessive or AD – Anterior: AR • Faun tail deformity – Lumbosacral, unknown transmission11.4  NAILS The nail is composed of 5 major anatomic regions (see Figure 11-12a and 11-12b) 1.) Nail plate – actual nail made up of tightly packed onychocytes 2.) Proximal nail fold – dorsal part of digit that lies adjacent to nail 3.) Nail matrix – epithelium which starts mid distal phalanx which generated the nail plate, determines the thickness of the nail plate; keratinizes without a granular layer Disorders of the Hair and Nails 405
  18. 18. 4.) Nail bed – thin epithelium immediately beneath nail plate; absent granular layer 5.) Hyponychium – epithelium that lies on the volar surface of digit Figure 11-12a. Structure of the Nail Figure 11-12b. Structure of the Nail The nail plate grows distally after it emerges from the proximal nail fold. Nail matrix kerati-nization occurs along an oblique and upward direction so that the proximal portion of the nailmatrix gives rise to the dorsal nail plate while the distal portion produces the ventral nail plate.The distal portion of the nail matrix is visible as the lunula. Rates of growth: fingernail – 3 mm/mo., toenail – 1 mm/mo.Tumors Affecting the Nail Myxoid Cyst Smooth, soft nodule most commonly adjacent to DIP joint (Figure 11-12a). When at proximal nail fold, causes longitudinal gooving in the nail plate. Contains clear yellow viscous fluid (Figure 11-12b). Path: Large pool of mucin with no lining. Glomus Tumor Small reddish-blue tender subungual tumors. Path: Small, uniform round cells with eosinophilic cytoplasm. Acquired Digital Fibrokeratoma (Figure 11-12) Firm excrescence on the finger or toe. Path: Collagen with no prominent nerves. Accessory Digit Firm excrescence on the finger or toe, most commonly at proximal portion of 5th digit. Path: Collagen with prominent nerve fascicles.406  2011/2012 Dermatology In-Review l Committed to Your Future
  19. 19. Wart Well-defined hyperkeratotic plaques around nails. Rarely invade beneath nail. Bowen’s Disease Hyperkeratotic plaques often with spread under nail plate.Nail Biopsy Techniques Nail Plate Biopsy Snipping of nail plate by scissors or nail clippers. Central portions of the nail plate can be biopsied with a punch. For onychomycosis should also include shave or scrape of subungual hyperkeratosis from as proximal as possible. PAS stain is most sensitive test for onychomycosis. Nail Avulsion Digital block or ring block around the nail. Nail is either twisted off with a hemostat or dissected off the nail bed using a nail elevator. Nailbed Tumor Punch biopsy through the nail plate into the nail bed or nail avulsion plus a punch biopsy or excision. Small nailbed defects are generally allowed to heal by secondary intention. Lateral Nail Fold Biopsy Shave or punch biopsy. A partial avulsion may be necessary for a growth that extends under the nail (e.g., SCC). Nail Matrix Biopsy Most commonly performed for longitudinal melanonychia. The proximal nail fold is anesthetized, and two deep lateral incisions are made from the lateral cuticle to the distal PIP. The U-Shaped skin is lifted off, allowing the entire proximal nail and matrix to be visualized. The point at which pigment arises is biopsied using punch biopsies or an excision extending down to the periosteum to include the entire matrix. Matrix is allowed to heal by secondary intention. Elevated skin flap is sewn back down. Table 11-2. Nail Disorders Problem Features/Definition Diseases/Causes Absent lunula Multiple myeloma Yellow nail syndrome Anonychia Absence of nail Nail-patella syndrome Congenital Onychodysplasia of the Index finger (COIF) Coffin-Siris syndrome Deafness, Congenital, Onychodystrophy, Recessive form (DOOR) Beau’s lines (see Figure 11-13) Transverse indented furrow from Occurs weeks after any stressful growth arrest of nail matrix event/illness that temporarily interrupted nail formation. The lines progress distally with normal nail growth and eventually disappear at the free edge Black nail Proteus mirabilis infection, hematoma Disorders of the Hair and Nails 407
  20. 20. Table 11-2. Nail Disorders (cont.) Problem Features/Definition Diseases/Causes Blue lunula Matrix Defect Wilson’s, argyria, busulfan, herediatry acrolabial telangiectasia, paronychia (pseudomonas), quinacrine, topical bichloride or mercury followed by sunlight, AZT, antimalarials, minocin, silver nitrate, hemochromatosis, ochronosis, phenolphthalein, PUVA, 5FU, blacks (normal variant) Brachyonychia (see Figure 11-15) Short nails (widthlength) Congenital: Rubenstein-Taybi (mutation in CREB-binding protein, broad thumbs and toes, beaked nose, mental retardation), micronychia with trisomy 21, congenital malalignment of great toes. Acquired: nail biting, hyperparathyroidism, psoriatic Clubbing (see Figure 11-16) Plate/matrix defect Hypertrophic pulmonary osteoarthropathy (hypertrophic OA + peripheral neuropathy + PVD + burning bone pain + muscle weakness) Risk of pulmonary cancer Pachydermoperiostosis Darier’s disease (see Figure 11-17) Alternating red and white Mutation in SERCA2, calcium longitudinal bands, V-shaped ATPase. Skin findings of distal nicking, subungual hyperkeratotic papules in a hyperkeratosis seborrheic distribution Dolichonychia (see Figure 11-15) Long nails (Length/width1) Ehlers-Danlos syndrome Marfan’s Eununchoid Hypopituitarism HED Elkonyxis Large 2-3 mm pits Green nail Pseudomonas (pyocyanin: dark green, fluorescein: yellow-green) Habit tic (see Figure 11-18) Horizontal parallel ridges often Trauma to cuticle accompanied by absent cuticle Heller’s median canaliform Longitudinal fissures with Trauma to proximal nail dystrophy (see Figure 11-18) oblique lines (Christmas tree pattern), h size of lunula Hapalonychia Soft nails, defect in matrix Heloma Corn Hematoma, subungual Treatment: if 25% trephinate; if 25%, remove nail to evacuate hematoma Koenen tumor (periungual Smooth round tumors that grow Hereditary: 50% of tuberous fibromas) out from the nail folds sclerosis. Acquired408  2011/2012 Dermatology In-Review l Committed to Your Future
  21. 21. Table 11-2. Nail Disorders (cont.)Problem Features/Definition Diseases/CausesKoilonychia Spooning of nail Hereditary: LEOPARD Defect in plate/matrix syndrome, ectodermal dysplasia, trichothiodystrophy, nail-patella syndrome. Acquired: faulty iron metabolism, Plummer– Vinson syndrome, hemochromatosis Neonatal (physiologic)Leukonychia White nail (from matrix) Usually insignificant, hereditary Acquired: trauma, drugs, infection, anemia, iCa, heart/ renal diseaseLindsay’s nails (half half) (see Distal nail normal, proximal nail Chronic renal failureFigure 11-20) white (=nailbed edema)Macronychia Large (wide) nails Neurofibromatosis I Tuberous sclerosis Proteus syndromeMee’s lines Transverse white lines that Arsenic poisoning, rheumatic affect ALL nails, grows out with fever, congenital heart failure, nail growth. Defect in nail plate leprosy, any systemic diseaseMelanonychia striata Longitudinal dark streaks in nail 2° trauma, nevus/melanoma, AIDS/AZT, normal variant in blacksMicronychia Small nails Congenital Onychodysplasia of the Index finger (COIF)Muehrcke’s lines Double white transverse lines Nephrotic syndrome, low from abnormal vascular bed. albumin, liver disease, Disappear with squeezing of nail malnutritionOil spots Brownish macules beneath the Psoriasis nail plate. Defect in nailbedOnychalgia Painful nailsOnychauxis Simple hypertrophy without any dystrophyOnychia Inflammation in nail unitOnychoatrophy Retinoids, paronychia SJS/TEN Epidermolysis bullosa Amyloid Idiopathic childhood PsoriaticOnychoclavus Subungual cornOnychocyrptosis Ingrown nail ± exuberant 1st toe granulation tissueOnychogryphosis (see Figure Rams nail (long, curving) Neglect, trauma11-21)Onychoheterotopia Abnormally placed nailOnycholysis Distal separation In psoriasis Systemic disease, trauma, drugs (chemotherapeutics, retinoids, TCN), contact dermatitis Disorders of the Hair and Nails 409
  22. 22. Table 11-2. Nail Disorders (cont.) Problem Features/Definition Diseases/Causes Onychomadesis = defluvium Periodic shedding of nail Systemic disease-arrest PCN unguium beginning with separation allergy, syphilis, psoriasis, TEN, proximally SJS, pemphigus, radiation, drugs (chemotherapeutic agents, carbamazepine, lithium) Onychophagia Nail biting Onychophosis Local or diffuse hyperkeratotic Trauma frequently on 1st and tissue that develops on the 5th toe lateral or proximal nail folds Onychoptosis Nail loss Onychorrhexis Longitudinal striations Older patients Onychoschizia Distal horizontal splitting Repeated wetting of nail, enamel removals Pachyonychia Thickened, hypertrophied nail Pachyonychia congenita: plates subungual hyperkeratosis, pincer nail, paronychia Type I: Jadassohn-Lewandowsky: Keratin 6 16 mutation, focal PPK, follicular hyperkeratosis, oral leukokeratoses (not premalignant) Type II: Jackson-Sertole: Keratin 6b, 17 mutation; steatocystoma multiplex, natal teeth, no leukokeratosis Type III: Shafer-Brunauer: Type I + corneal leukokeratosis Type IV: I/II/III + laryngeal lesions, MR, alopecia Type IV: pachyonychia congenita tarda: hyperpigmentation of flexures, amyloid deposition Paronychia, acute Staph (most common), Strep, E Coli Paronychia, chronic Candida, molds (Scytalidium), syphilis, TB, leprosy Parrot beak nails (see Figure Free nail curves downward 11-19) (disappears with soaking) Pitting Psoriasis, alopecia areata, eczema, paronychia. Defective keratinization on proximal matrix Pigmentation Actinomycin, antimalarials, bleomycin, cytoxan, doxorubicin, 5-FU, melphalan, MTX, minocycline, nitrogen mustard, AZT, Addison’s, hemochromatosis, Peutz- Jeghers, B12 deficiency Pincer nails (see Figure 11-22) Transverse excessive curvature Hereditary or from shoes, from widened base of terminal usually 1st toenails; subungual phalanx exostoses, osteoarthritis, psoriasis410  2011/2012 Dermatology In-Review l Committed to Your Future
  23. 23. Table 11-2. Nail Disorders (cont.)Problem Features/Definition Diseases/CausesPlatyonychia h nail curvature in the long axisPlicatured nails (see Figure 11-22) Flat transversely with vertical lateral dropsPlummer’s nails Onycholysis from hypothyroidismDorsal pterygium (see Figure Scarring of proximal nail fold Lichen planus, acrosclerosis,11-23) onychotillomania, Lesch-Nyhan syndrome, chronic GVHD, SJS/ TEN, cicatricial pemphigoidVentral pterygium: pterygium Adherence of ventral surface Systemic sclerosis, congenitalinversum unguis of distal nail plate to the hyponychiumRed lunulae Matrix Alopecia areata, psoriasis, prednisone for connective tissue diseases, carbon monoxide poisoning, cardiac failure, SLE, RA, COPD, CO2, cirrhosis, azathioprine, radiationSamitz sign Cuticle Cuticular fraying from dermatomyositisShiny nails From chronic rubbing or scratchingSplinter hemorrhage Nail bed Endocarditis, vasculitis, trichinosis, trauma, psoriasisSpotted red lunulae Alopecia areata, psoriasis, SLE, LP, RATerry’s nails (see Figure 11-20) All but distal 2mm evenly white Cirrhosis, congenital heart Defect in nail bed failure, diabetesTrachyonychia Rough nails 20 nail dystrophy – may resolve with ageTransverse white bands Affects 1-2 nails Trauma of matrixTriangular lunulae Nail-patella syndrome: mutation in LMX1b, triangular or absent lunulae, hypoplastic or absent patella, nephropathyUnguis incartus Ingrown nailsYellow nail syndrome Absent cuticles/lunulae, slow Lower extremity lymphedema + growth, dystrophic shape, bronchiectasis/pleural effusion transverse ridging (TB, asthma, cancer). Associated with D-penicillamine and bucillamine use in patients with rheumatoid arthritis Disorders of the Hair and Nails 411
  24. 24. Table 11-3. Infections of the Nail Onychomycosis Most Common Organism Other Organisms Distal subungual Trichophyton rubrum T mentag, E floc White superficial/ Proximal T rubrum (kids, HIV patients) Fusarium oxysporum, white subugal Scopulariopsis brevicalis, Acremonium, Aspergillus, Candida Superficial onychomycosis T mentag Fusarium, Acremonium, (toenails only), Aspergillus Lateral invasion + paronychia Hendersonula toruloidea, Scatylidium hyalinum Figure 11-13. Figure 11-14. Beau’s Lines Figure 11-15.412  2011/2012 Dermatology In-Review l Committed to Your Future
  25. 25. Figure 11-16. Clubbing Figure 11-17. Darier’s Disease Figure 11-18. Figure 11-19. Figure 11-20. Figure 11-21. Onychogryphosis Figure 11-22. Figure 11-23. Disorders of the Hair and Nails 413
  26. 26. NOTES414  2011/2012 Dermatology In-Review l Committed to Your Future
  27. 27. NOTES Disorders of the Hair and Nails 415
  28. 28. NOTES416  2011/2012 Dermatology In-Review l Committed to Your Future