Pigmented hairy epidermal nevus syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Pigmented hairy epidermal nevus syndrome | |||
| synonyms = [[Becker's nevus syndrome]], [[Becker nevus syndrome]] | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Hyperpigmentation]], [[Hypertrichosis]], [[Musculoskeletal abnormalities]], [[Breast hypoplasia]] | |||
| complications = [[Scoliosis]], [[Spina bifida]], [[Cardiac anomalies]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[Genetic testing]] | |||
| differential = [[Congenital melanocytic nevus]], [[Nevus sebaceous]], [[Linear epidermal nevus]] | |||
| treatment = [[Laser therapy]], [[Surgical excision]], [[Cosmetic camouflage]] | |||
| prognosis = [[Variable]], generally [[benign]] | |||
| frequency = [[Rare]] | |||
}} | |||
'''Pigmented hairy epidermal nevus syndrome''' (PHENS) is a rare [[dermatological]] condition characterized by the presence of pigmented hairy [[epidermal nevus]] along with various other systemic abnormalities. | '''Pigmented hairy epidermal nevus syndrome''' (PHENS) is a rare [[dermatological]] condition characterized by the presence of pigmented hairy [[epidermal nevus]] along with various other systemic abnormalities. | ||
==Etiology== | ==Etiology== | ||
The exact cause of PHENS is unknown. However, it is believed to be a result of [[mosaicism]], a condition where an individual has two or more populations of cells with different genotypes in one organism, which is caused by a mutation during development. | The exact cause of PHENS is unknown. However, it is believed to be a result of [[mosaicism]], a condition where an individual has two or more populations of cells with different genotypes in one organism, which is caused by a mutation during development. | ||
==Clinical Features== | ==Clinical Features== | ||
The primary feature of PHENS is the presence of a pigmented hairy epidermal nevus, which is a type of [[birthmark]] that is present at birth or appears shortly after birth. These nevi are usually darkly pigmented and covered with hair. | The primary feature of PHENS is the presence of a pigmented hairy epidermal nevus, which is a type of [[birthmark]] that is present at birth or appears shortly after birth. These nevi are usually darkly pigmented and covered with hair. | ||
In addition to the skin abnormalities, individuals with PHENS may also have various systemic abnormalities. These can include [[neurological]] abnormalities such as [[seizures]] and [[intellectual disability]], [[skeletal]] abnormalities such as [[scoliosis]] and limb asymmetry, and [[ocular]] abnormalities such as [[coloboma]] and [[cataract]]. | In addition to the skin abnormalities, individuals with PHENS may also have various systemic abnormalities. These can include [[neurological]] abnormalities such as [[seizures]] and [[intellectual disability]], [[skeletal]] abnormalities such as [[scoliosis]] and limb asymmetry, and [[ocular]] abnormalities such as [[coloboma]] and [[cataract]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of PHENS is primarily based on clinical examination. The presence of a pigmented hairy epidermal nevus along with one or more systemic abnormalities is suggestive of the syndrome. [[Genetic testing]] may also be performed to identify mosaicism. | Diagnosis of PHENS is primarily based on clinical examination. The presence of a pigmented hairy epidermal nevus along with one or more systemic abnormalities is suggestive of the syndrome. [[Genetic testing]] may also be performed to identify mosaicism. | ||
==Treatment== | ==Treatment== | ||
There is no cure for PHENS. Treatment is symptomatic and supportive, and may include [[dermatological]] treatments for the skin abnormalities, [[neurological]] treatments for seizures and other neurological abnormalities, and [[orthopedic]] treatments for skeletal abnormalities. | There is no cure for PHENS. Treatment is symptomatic and supportive, and may include [[dermatological]] treatments for the skin abnormalities, [[neurological]] treatments for seizures and other neurological abnormalities, and [[orthopedic]] treatments for skeletal abnormalities. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with PHENS varies widely and depends on the severity and extent of the systemic abnormalities. | The prognosis for individuals with PHENS varies widely and depends on the severity and extent of the systemic abnormalities. | ||
==See Also== | ==See Also== | ||
* [[Epidermal nevus syndrome]] | * [[Epidermal nevus syndrome]] | ||
* [[Nevus]] | * [[Nevus]] | ||
* [[Mosaicism]] | * [[Mosaicism]] | ||
{{stub}} | {{stub}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
| Line 35: | Line 38: | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{No image}} | {{No image}} | ||
Latest revision as of 01:29, 4 April 2025
| Pigmented hairy epidermal nevus syndrome | |
|---|---|
| Synonyms | Becker's nevus syndrome, Becker nevus syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperpigmentation, Hypertrichosis, Musculoskeletal abnormalities, Breast hypoplasia |
| Complications | Scoliosis, Spina bifida, Cardiac anomalies |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical examination, Genetic testing |
| Differential diagnosis | Congenital melanocytic nevus, Nevus sebaceous, Linear epidermal nevus |
| Prevention | N/A |
| Treatment | Laser therapy, Surgical excision, Cosmetic camouflage |
| Medication | N/A |
| Prognosis | Variable, generally benign |
| Frequency | Rare |
| Deaths | N/A |
Pigmented hairy epidermal nevus syndrome (PHENS) is a rare dermatological condition characterized by the presence of pigmented hairy epidermal nevus along with various other systemic abnormalities.
Etiology[edit]
The exact cause of PHENS is unknown. However, it is believed to be a result of mosaicism, a condition where an individual has two or more populations of cells with different genotypes in one organism, which is caused by a mutation during development.
Clinical Features[edit]
The primary feature of PHENS is the presence of a pigmented hairy epidermal nevus, which is a type of birthmark that is present at birth or appears shortly after birth. These nevi are usually darkly pigmented and covered with hair. In addition to the skin abnormalities, individuals with PHENS may also have various systemic abnormalities. These can include neurological abnormalities such as seizures and intellectual disability, skeletal abnormalities such as scoliosis and limb asymmetry, and ocular abnormalities such as coloboma and cataract.
Diagnosis[edit]
Diagnosis of PHENS is primarily based on clinical examination. The presence of a pigmented hairy epidermal nevus along with one or more systemic abnormalities is suggestive of the syndrome. Genetic testing may also be performed to identify mosaicism.
Treatment[edit]
There is no cure for PHENS. Treatment is symptomatic and supportive, and may include dermatological treatments for the skin abnormalities, neurological treatments for seizures and other neurological abnormalities, and orthopedic treatments for skeletal abnormalities.
Prognosis[edit]
The prognosis for individuals with PHENS varies widely and depends on the severity and extent of the systemic abnormalities.
