Ichthyosis follicularis with alopecia and photophobia syndrome
Ichthyosis follicularis with alopecia and photophobia syndrome (IPA: /ɪk.θiːˈoʊ.sɪs fɒlɪkjʊˈleɪrɪs wɪð æləˈpiːʃə ænd ˌfoʊtoʊˈfoʊbiə sɪnˈdroʊm/) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia (hair loss), and photophobia (light sensitivity).
Etymology
The term "Ichthyosis" is derived from the Greek word "ichthys" meaning fish, referring to the scaly skin observed in this condition. "Follicularis" refers to the involvement of the hair follicles. "Alopecia" is the Latin word for hair loss, and "photophobia" is derived from the Greek words "phos" (light) and "phobos" (fear), indicating an aversion to light.
Symptoms
The primary symptoms of this syndrome include:
- Ichthyosis follicularis: This is characterized by the presence of tiny, spiky skin projections giving the skin a rough, sandpaper-like texture.
- Alopecia: This refers to the loss of hair from the scalp and/or body.
- Photophobia: This is an abnormal sensitivity to light, causing discomfort or pain in the eyes when exposed to light.
Causes
Ichthyosis follicularis with alopecia and photophobia syndrome is caused by mutations in the MBTPS2 gene. This gene provides instructions for making an enzyme that is involved in the normal development and function of the skin and hair.
Treatment
Treatment is symptomatic and supportive, focusing on managing the individual symptoms. This may include the use of emollients and keratolytics for the skin, wigs or hairpieces for alopecia, and sunglasses or protective eyewear for photophobia.
See also
External links
- Medical encyclopedia article on Ichthyosis follicularis with alopecia and photophobia syndrome
- Wikipedia's article - Ichthyosis follicularis with alopecia and photophobia syndrome
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