[CIS PIDD] [cis-pidd] Partial Jacobsen syndrome

[CIS-PIDD]

Dear All,

I  have a 29 yr old female  patient with karyotype confirmed distal chromosomal deletion of no 11. She recently presented   to our service with  severe anal  and genitial warts, with malignant transformation into carcinoma, all resected and not spreading. She also has eczema like skin lesions. Biopsy confirmed.
She has facial appearances that look like Jacobsen syndrome, but with  hirsutism.
Wart treatment includes iquinimod has failed. She has had guardasil vaccinations
Would there be any advice you could offer as to how to manage her condylomata?

Here is her problem list and summary of results.

1.         Recurrent severe genitourinary HPV infection
-        Recurrent vaginal and anal warts with secondary VIN and rectal carcinoma (no metastases and fully resected), biopsy results 02/07/2015 show AINII/III but no invasion
-        CINII/III on PAP smear 02/07/2015
-        Cutaneous skin abscess over the right hip aged seven
-        Toenail tinea ( but looks minimal clinically today) treated  4 weeks of terbinafine
-        Forearm skin biopsy consistent with eczema.
-        No recurrent vaginal or oral candidiasis
-        Recurrent cutaneous warts milder on hands and ankles, spontaneously resolved
-        No fractures,
-        2.         Ch 11 deletion
-        Delayed early motor development Possibly delayed primary teeth loss ( age 9 one had to be removed by dentist )
-        Early menarche aged seven,
-        Acromegalic, hirsute, greasy skin.   Testosterone,  IGF-1 normal
-        No Family History of PID
3.         Rash with  secondary Staph aureus infection Biopsy reported as chronic spongiotic dermatitis ( this is more eczema like than psoriatic) Now resolved.

Current Medication
Depoprovera

Further Negative or Normal Investigations
Platelets normal morphology
WCC normal  and lymphocyte subsets all normal
HIV test negative on two occasions, syphilis serology normal
Immunoglobulins IgG 6.7 (normal pre-op and for many years)
IGF-1 normal
Prolactin normal
TFT normal
HbA1c normal
Testosterone normal


Many thanks

Dr Karen Lindsay
Rheumatologist and Immunology Fellow
MBChB BSc MRCP (UK)
Immunology dept
Auckland City Hospital



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