Edyta Heropolitańska-Pliszka, Poland

CMHI Immunology

Presenter of 1 Presentation

Poster Display DNA repair disorders

SPECTRUM OF CUTANEOUS MANIFESTATION IN LARGE COHORT OF POLISH PATIENTS WITH NIJMEGEN BREAKAGE SYNDROME (NBS)

Lecture Time
10:10 - 10:11
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Presentation Topic
DNA repair disorders

Abstract

Background and Aims

NBS is rare autosomal recessive DNA-repair disorder, characterized by microcephaly, facial dysmorphy, skin pigmentation defects, combined immunodeficiency, chromosomal instability, and high predisposition to malignancy. Most patients are of Slavic origin and carry same homozygous deletion (c.657_661del5) of NBN gene. There are only few case reports on cutaneous manifestations of NBS in literature, so we sought to delineate dermatological features of big series of Polish NBS patients.

Methods

The study was performed as a part of ERA-NET-E-Rare-3/l/EuroCID/04/2016 grant in CMHI, Warsaw. All patents had detailed cutaneous examination, other data were extracted from patients' charts.

Results

52 patients (22M, 30F) from 49 families were interviewed and examined. Median age at assessment was 11,8 years (range 6 months-39 years). Three patients underwent stem cell transplantation 2-11 years before examination. Pigmentation anomalies included café-au-lait spots (91%), hypopigmented macules (52%), melanocytic nevi (48%). 39% of patients presented with persistent form of vasculitides (livedo reticularis) and Raynaud’s phenomenon, which needs further elucidation. Granulomatous skin lesions were clinically diagnosed in 23% of cases, in 15,5% being histologically confirmed. In 2 cases of atopic/eczematous-like erythrodermia, skin biopsy also revealed granulomatous changes. Autoimmune complications (vitiligo, alopecia) showed 4 and 2 patients, respectively. Other frequent manifestations included progeric skin changes, premature hair graying and thin/sparse hair. Surprisingly, any infectious skin complication were observed.

Conclusions

Rarity of disease suggests this is largest clinical study of cutaneous manifestation involving 52 living NBS patients. Most frequent skin lesion, besides skin pigmentation defects, are form of vasculitides/Raynaud’s phenomenon. Incurable, progressive skin granulomas are most challenging in diagnosis and treatment.

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