Abstract

; VILLANI, María Emilia; ORTELLADO, Luján  and  MEROLA, Gladys Irene. INCONTINENTIA PIGMENTI. CLINICAL PROGRESSION AND DIAGNOSIS OF A CASE. Rev. argent. dermatol. [online]. 2024, vol.105, pp.1-1. ISSN 1851-300X.

Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families.

We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

Keywords : incontinentiapigmenti; X linked genodermatosis; neuroectodermal dysplasia,Bloch Sulzberger syndrome; Bloch Sulzberger syndrome; systematic pigmented nevus; IKBKG/NEMO.