Linear whorled hypermelanosis Q82.3

Neurocutaneous phenotype of a "pigmented mosaicism" clinically characterized by hyper-(and hypo-) pigmentation without previous vesicle or wart stage (characteristic of Incontinentia pigmenti Bloch-Sulzberger). Combined with genetic mosaicism it shows a distribution along the Blaschko lines. Furthermore, extracutaneous manifestations of this genetic defect are found in the eyes and nervous system.

At the trunk, also at the extremities or at the capillitium, non-inflammatory, non-scalying or itchy, symmetrically arranged, whirling linear hyperpigmentations can be found, which appear at the trunk in V- or W-shaped arrangement.

The dyschromic cutaneous mosaics may be associated with abnormalities of the uagen, musculoskeletal system and CNS (seizure disorders, retarded mental development, kidney dysplasia or aplasia).

LWH syndrome appears as a "positive variant" of hypomelanosis Ito. Eides may be associated with trisomy 7 and are considered to be different phenotypes of the same genetic defect.

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