El síndrome de Bloch-Sulzberger o incontinencia pigmentaria es una genodermatosis infrecuente que afecta a los tejidos derivados del neuroectodermo. Esta patología herencia dominante, tiene penetrancia 100% y se encuentra ligada al cromosoma X. En pacientes género masculino suele ser letal, por lo la mayor parte casos reportados son mujeres diagnosticadas durante primera infancia. cuanto cuadro...

ReportofaCase |A5-month-oldboyofnon-consanguineousparents presented with congenital brown pigmentation on his ankles that progressed to the knees, shins, andwrists. Born at 35weeks’ gestation via cesarean delivery, he had facial asymmetry and leg contractures initially attributed to breech positioning in utero. He had poor weight gain but normal vision andhearing. At age 3months, he underwent a...

Inheritance Bazex-Dupré-Christol syndrome is an X-linked dominant genodermatosis, with a prevalence below 1/1 000 000. The female to male ratio reaches the expected 2:1, and females appear to be less affected than males. There is intrafamilial and interfamilial phenotypic variability (Lacombe and Taïeb, 1995; Kidd et al., 1996). Most cases are European patients. Oley syndrome (Oley et al., 1992...

Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermoly...

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the asso...

Lipoid proteinosis is caused by loss-of-function mutations in the glycoprotein extracellular matrix protein 1 (ECM1). We report here mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosis. A 10year-old boy presented with a hoarse voice, acneiform scars and yellow skin nodules, as well as beaded eyelid papules and a thickened sublingual frenulum. Skin biopsy showed widesp...

Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings ar...

In conclusion, BSI is a rare genodermatosis belonging to the group of ARCI. It has a series of clinical and diagnostic peculiarities that we should be aware of. Although the diagnosis is usually clinical, confirmation can only be made by genetic analysis of the TGM-1 gene. This is the only gene implicated in this condition, but its mutations are also the most prevalent in other forms of ARCI, a...