Phakomatosis pigmentokeratotica is a
rare neurocutanous condition characterized by the combination of an
organoid sebaceous nevus and
speckled lentiginous nevus.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .][Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .] 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
Dysesthesia is an unpleasant, abnormal sense of touch. Its etymology comes from the Greek word "dys," meaning "bad," and "aesthesis," which means "sensation" (abnormal sensation). It often presents as pain Joseph J. Marbach, Joseph Marbach hypot ...
and
hyperhidrosis
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psycholog ...
in a segmental pattern, mild
mental retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...
,
seizures
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with l ...
,
deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written ...
,
ptosis and
strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a ...
.
See also
*
Skin lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ...
*
List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
References
External links
Epidermal nevi, neoplasms, and cysts
Dermal and subcutaneous growths
Neurocutaneous conditions
Rare diseases
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