Multiple Pilomatricomas in Rubinstein‐Taybi Syndrome; A Case Report

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Abstract
Rubinstein‐Taybl syndrome is a multisystem developmental disordar due to an autosomal dominant mutation. It Is clinically defined by the presence of peculiar facles, mental retardation, and bread thumbs and first toes. Important dermatologic findings include hirsutism, keiolds, hemanglomas, and dermatoglyphic abnormalities. We report a 12‐year‐old girl with the typical phenotype of Rubinsteln‐Taybi syndrome, associated wtth numerous ptlomatrloomas. These are benign epithelial neoplasms with hair eel differentiation that may have a familial transmission. Pilomatricomas have not been reported in patterns with Rubinstem‐Taybl syndrome, although their association with myotonlc dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association Include contiguous gens syndrome, the action of a piefotropic gene, predisposition to malformations, and mere coincidence.

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