Phakomatosis pigmentokeratotica | |
---|---|
Other names | Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies |
Specialty | Dermatology |
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus. [1]: 634–5 [2]: 776 It is an unusual variant of epidermal naevus syndrome. [3] It was first described by Happle et al. [4] 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. [5]
Phakomatosis pigmentokeratotica consists of a speckled lentiginous naevus arranged in a checkerboard pattern and an organoid (epidermal) naevus associated with sebaceous differentiation. [6] [7] 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. [5]
Phakomatosis pigmentokeratotica is brought on by a multipotent progenitor cell's postzygotic HRAS mutation. [8]
{{
cite journal}}
: CS1 maint: DOI inactive as of June 2024 (
link)
Phakomatosis pigmentokeratotica | |
---|---|
Other names | Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies |
Specialty | Dermatology |
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus. [1]: 634–5 [2]: 776 It is an unusual variant of epidermal naevus syndrome. [3] It was first described by Happle et al. [4] 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. [5]
Phakomatosis pigmentokeratotica consists of a speckled lentiginous naevus arranged in a checkerboard pattern and an organoid (epidermal) naevus associated with sebaceous differentiation. [6] [7] 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. [5]
Phakomatosis pigmentokeratotica is brought on by a multipotent progenitor cell's postzygotic HRAS mutation. [8]
{{
cite journal}}
: CS1 maint: DOI inactive as of June 2024 (
link)