Pigmented hairy epidermal nevus syndrome

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

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

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

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

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

The prognosis for individuals with PHENS varies widely and depends on the severity and extent of the systemic abnormalities.

See Also

• Epidermal nevus syndrome
• Nevus
• Mosaicism

Pigmented hairy epidermal nevus syndrome Resources
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