Clinical meeting on JOB SYNDROME

1. Dr. Jahangir Alam
MBBS, DCH, FCPS
CMH Dhaka, Bangladesh.

2. Particular’s of the patient
 Name : Akhi
 Age : 5 years
 Sex : Female
 Informant : Grandmother
 Bed no : 05
 Ward : General Paediatrics
 Address : Comilla
 Date of admission : 10/1/16

3. Chief complaints:
 Painful swelling in right thigh for last 01 month
 Recurrent attack of itchy skin lesion over whole
body since early infancy
 Recurrent episodes of respiratory tract infection &
ear infection from early childhood.

4. History of present illness
According to the statement of informant grand mother the
child developed –
Painful swelling over right thigh which is gradually
increasing in size for last one month and associated
with purulent discharge through a small opening
after spontaneous rupture. On inquiry grandmother
told that she developed recurrent attack of pastular
lesion of various size over various parts of body since
her early infancy.
She has history of recurrent diffuse itchy
erythematous rash over whole body including face,
palm and soles associated with ulceration & oozing
from early infancy with relapse and recurrence.

5. History of present illness
Grandmother also mentioned that the child also
developed repeated respiratory tract and ear
infection since early infancy.
For these illness she visited to several doctors and also
admitted to various clinic and hospital and each time
treated with injectable drugs but couldn’t mention
the name of medicine.

6. History of present illness contd..
There is no history of asthma, conjunctivitis, food allergy,
recurrent diarrhoea, joint pain, bleeding manifestation,
convulsion or unconsciousness or sib death in the family.

7.  Nothing significant
History of past illness

8.  Birth history:
Born by normal delivery at home at term and birth
history was uneventful
 Feeding history:
She is exclusively breast feed baby and now is on family
diet.
 Immunization history:
Completed as per EPI schedule
 Development history:
Milestone of development is age appropriate

9.  Family history:
She is the 1st issue of consanguineous parents. Father is
serving in abroad, Non of the family members suffering
from any significant illness.
 Socio-economic history:
She is coming from a lower middle class family, living in
building, using sanitary latrine and drinking tube-well
water.

10. General physical examination
 Appearance :Ill looking
 Pallor : mild
 Jaundice, Cyanosis, Clubbing
 Dehydration, Edema
 Leuconychia, Koilonychia:
 BCG mark : present
 Lymphnode: Anterior cervical
lymphnodes including jugulo-digastric
lymphnodes are enlarged, 2/3 in number,
discrete, firm, nontender, not fixed,
 Ear : watery discharge is present in both
ear
absent

11.  Diffuse eczematous dermatitis
 some of which are erythematous excoriated papular in
nature,
 some are dry crusted with scab formation,
 some are ulcerated with oozing
Skin survey

12. Vital signs
 Pulse : 100/min
 BP : 80/40 mm HG
 Temp : 980 F
 Resp rate : 24/min

13. Local examination:
 There was an abscess in the front of right thigh
 Size : 8 cm X 5cm
 tender
 Color of overlying skin : reddish
 Temperature : normal
 Consistency : soft in the consistency
with small opening in the
center with purulent discharge

14. Anthropometry

15. Weight- 13 kg, WAZ – 2.8

16. Height : 91 cm, HAZ - 3.6

17. Weight for height lies in between 50th and 75th centile

18. Gastrointestinal system
 Inspection :abdomen is distended
umbilicus is centrally placed and everted
 Palpation: liver is enlarged about 5 cm from right
costal margin along the mid clavicular line.
nontender, firm in consistency , surface
smooth, margin sharp,
upper border of liver dullness at Rt 5th intercostal
space
no other organomegaly
fluid thrill absent
 Percussion: Tympanatic
 Auscultation: bowel sound is present and normal

19.  Cardiovascular system
 Respiratory system
 Nervous system
 Locomotor system
No abnormality

20. Salient features
Akhi, 5 year old girl, 1st issue of a consanguneous
parents got admitted with the complaints of formation
deep seated abscess over right thigh for 1 month, with
the history of recurrent attack of skin abscess, itchy
dermatitis, respiratory tract infection & ear infection
since early infancy. For these illness she had been admitted
to various hospital or clinic and each time treated with
injectable antibiotics. She had no history of other
allergic manifestation like asthma, allergic conjunctivitis,
recurrent diarrhoea, joint pain, bleeding manifestation,
convulsion or unconsciousness.

21. Salient feature contd….
On examination she was ill looking, mildly pale,
BCG mark present, cervical lymphnode of are
enlarged, watery dischagre are coming out from both
ear, anthopometry HAZ: -3.6, WAZ: -2.8, there is
diffuse itchy eczematous lesion over whole body,
and a deep seated skin abscess measuring about 5X8
cm2 is present in anterior aspect of right thigh.
Examination of abdominal system revealed distended
abdomen with hepatomegaly. Other systemic
examination revealed no abnormality.

22. Provisional Diagnosis

23. Provisional Diagnosis
Primary Immunodeficiency Syndrome
most probably Hyper IgE syndrome
Differential diagnosis
Atopic Dermatitis

24. Primary Immunodeficiency Syndrome
most probably Hyper IgE syndrome
 Points in favors of primary
immunodeficiency
syndrome
 Recurrent boil and abscess
 Recurrent otitis media
 Recurrent respiratory tract
infection
 Required injectable
antibiotics for treatment
 Consangunity of marriage
in parents
 On examination- abscess
in rt thigh, otitis media
Points in favors of hyper
IgE syndrome
 Recurrent intense itchy
eczematous lesion over
skin
 Failure to thrive
 On examination- diffuse
eczematous lesion
present over whole body

25. Atopic dermatitis
Points in favours Points against
History
Recurrent episodes of
eczematous skin lesion over
whole body associated with
intense itching
Examination
Diffuse eczematous lesion
present over whole body
History
Recurrent abscess
Recurrent RTI
Recurrent otitis media
No associated other allergic
manifestation
No family history of atopy
or allergy
Examination
No lichenification

26. Investigation

27. Investigations findings
Investigation findings
CBC HB – 10 gm/dl
WBC – 22x109/L
N- 50%
L- 20%
E- 25%
Platelet- 600X109/L
ESR- 81 mm in 1st hour
PBF RBC- microcytic hypochromic with
neutrophilic leukocytosis with eosinophilia
and thrombocytopenia
Urine R/M/E Normal findings
Pus for Gram staining Reactive organism are found,
Pus for AFB Negative
Pus for C/S No growth

28. Investigation cont…
Investigation findings
Ig E 2650 IU/ml
Ig G 13.9 gm/dl ( 7- 16 g/L )
Ig M 0.433 gm/dl ( 0.4- 2.3 g/L )
Ig A 2.29 gm/dl ( 0.7 - 4 g/L )
Anti HIV (ELIZA) Negative
NBT Positive
CXR Normal findings

29. Final Diagnosis
Hyper IgE Syndrome
( JOB Syndrome )

30. Management
 Treatment given
 Inj Ceftriaxone
 Syrup flucloxacillin
 Syrup Chlorpheniramine
 Syrup Ranitidine
 Tablet montelukast
 Moisturizing Body Lotion
 Incision & drainage of pus and dressing of wounds

31. Follow up on 19/1/16 Day10
S O A P
Itching
persisting
Afebrile
Vital parameters
are normal
skin: itchy
eczematous rash
persists gradually
subsiding
Abscess: discharge
reduced and
wounds are
gradually healing
Improving Discharge the
patient with
prophylactive
long term
penicillanse
resistance
anti-
staphylococcal
antiboitics .

32. Thank you