Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. ... Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.
Siemens (1925) described 2 families with X-linked inheritance of keratosis follicularis spinulosa decalvans. According to information from Oosterwijk (1992), 1 family was from Bavaria and the other from the Netherlands. Siemens personally investigated 2 members of the Dutch ... Siemens (1925) described 2 families with X-linked inheritance of keratosis follicularis spinulosa decalvans. According to information from Oosterwijk (1992), 1 family was from Bavaria and the other from the Netherlands. Siemens personally investigated 2 members of the Dutch family on the invitation of Lameris, who had reported the cases as ichthyosis follicularis. Two weeks after his visit to Lameris, Siemens encountered the index cases of the Bavarian family. The ophthalmologic features of the Lameris family were reported by Rochat (1906). The family studied by Sendi (1957) was described also by Franceschetti et al. (1956, 1957). The Lameris kindred was studied further by Jonkers (1950) and the pedigree was reproduced by Waardenburg et al. (1961). A further follow-up on the classic family of Siemens (1926) was provided by van Osch et al. (1992). They commented on the finding of high cuticles on the fingernails. Carriers often had dry skin, minimal follicular hyperkeratosis, and mild hyperkeratosis of the calcaneal areas of the soles. Mild corneal dystrophy without photophobia was found in a female carrier. Herd and Benton (1996) reported the first family with KFSD in the U.K. The proband was a 38-year-old Caucasian man who in infancy suffered from photophobia, recurrent blepharitis and conjunctivitis resulting in deformed eyelashes, entropion, and corneal scarring. He also had abnormal eyebrows. He developed progressive myopia from the age of 9 years, punctate keratitis when age 10, and at the age of 20 a retinal detachment. He came to dermatologic attention because of progressive scalp hair loss at age 26. Examination showed follicular hyperkeratosis and folliculitis of the scalp, resulting in scarring alopecia, and extensive follicular keratotic spinules on the trunk. A first cousin once removed related to the proband through female relatives had been seen at the age of 2 years with flexural eczema. She had at that time sparse scalp hair and eyebrows, with keratosis pilaris on the outer aspect of her upper arms and cheeks. At the age of 3, she developed photophobia but no ophthalmologic abnormality was found. Nonetheless, the development of marked photophobia, widespread follicular hyperkeratosis, and calcaneal hyperkeratosis suggested KFSD. The rest of the pedigree was investigated. The second patient was the only female in the family who was severely affected. Treatment with retinoids led to remission of the inflammation and cessation of the spreading alopecia.
In affected members of the large Dutch family with KFSDX originally reported by Siemens (1926) and followed-up by van Osch et al. (1992), Aten et al. (2010) identified a mutation in the MBTPS2 gene (R508S; 300294.0006). The same ... In affected members of the large Dutch family with KFSDX originally reported by Siemens (1926) and followed-up by van Osch et al. (1992), Aten et al. (2010) identified a mutation in the MBTPS2 gene (R508S; 300294.0006). The same mutation was found in an affected family from the U.K. (Herd and Benton, 1996) and in another family from the U.S., although haplotype analysis did not suggest a common ancestor. In vitro functional expression studies in CHO-M19 cells showed that the mutation decreased sterol responsiveness by 50%, indicating loss of proteolytic activity of the MBTPS2 protein. In obligate female carriers, imbalances in allelic expression perfectly matched with skewed levels of X inactivation and with the clinical phenotype. The findings suggested that KFSDX and IFAP syndrome are related along a similar disease spectrum.