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...

A 52-year-old woman presented with a 10-year-history of memory loss and executive dysfunction. Examination disclosed hypopigmented whorls and linear streaks following the lines of Blaschko in different body segments (Figure 1), typical of Hypomelanosis of Ito (HI). Brain MRI showed marked enlarged Virchow-Robin spaces (Figure 2). HI or incontinentia pigmenti achromians (MIM#300337) represents a...

Sir, Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented macules in a streaky configuration along the lines of Blaschko, without preceding inflammation or atrophy.[1-3] Lesions are distributed mainly on the trunk and extremities, sparing palms, soles, and mucosae. The usual age of the onset of hyperpigmentation occurs within the first few weeks of life, continues ...

X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...

Lichen striatus is an acquired inflammatory dermatosis that usually presents in children as papules arranged in a single band following the Baschko lines on an extremity. The disorder resolves slowly, leaving transient hypopigmentation, and rarely recurs. Histopathology findings indicate both lichenoid and spongiotic dermatitis. A variant of blaschkitis that occurs in adults is referred to as a...

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the line...

Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare genodermatosis characterized by typical skin lesions accompanied by dental, central nervous system, bone and ocular abnormalities. Incontinentia pigmenti is usually observed among women, as this X-linked dominantly inherited disorder is lethal in males. The hallmark feature of IP is cutaneous eruption along the lines of Blasc...

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...