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Phakomatosis pigmentokeratotica

Field	Value
name	Phakomatosis pigmentokeratotica
synonyms	Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies
field	Dermatology

Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus. It is an unusual variant of epidermal naevus syndrome. It was first described by Happle et al. It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.

Signs and symptoms

Phakomatosis pigmentokeratotica consists of a speckled lentiginous naevus arranged in a checkerboard pattern and an organoid (epidermal) naevus associated with sebaceous differentiation. Other abnormalities are prevalent; these are usually neurological or skeletal and include hemiatrophy, segmental dysaesthesia and hyperhidrosis, minor mental retardation, seizures, deafness, ptosis, and strabismus.

Causes

Phakomatosis pigmentokeratotica is brought on by a multipotent progenitor cell's postzygotic HRAS mutation.

References

James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN. 0-07-138076-0.
(2002). "Phacomatosis pigmentokeratotica". Journal of the Royal Society of Medicine.
(11 November 1996). "Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome.". American Journal of Medical Genetics.
(March 1998). "Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome.". Archives of Dermatology.
(1998). "Phacomatosis pigmentokeratotica: Speckled-Lentiginous Nevus in Association with Nevus sebaceus". S. Karger AG.
(1998). "What syndrome is this. Phakomatosis pigmentokeratotica (Happle).". Wiley.
(2016-05-04). "Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?". Wiley.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

epidermal-nevi,-neoplasms,-and-cysts dermal-and-subcutaneous-growths neurocutaneous-conditions rare-diseases

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