Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature

Abstract

Keratosis follicularis spinulosa decalvans (KFSD) is an X-linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS2 gene. We carried out a genetic study on a child who was suspected clinically to have KFSD. Sanger sequencing was performed to detect mutations in the entire coding region of MBTPS2. A novel missense mutation (c.599C>T) was identified in the patient, confirming a diagnosis of KFSD. We reviewed related cases with MBTPS2 mutations for evidence of genotype-phenotype correlations.

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

“…Glycerol kinase 5 (GK5) inhibits SREBP processing; however, the mechanism through which this occurs is unknown . Mutations to MBTPS2 are associated with IFAP and KFSD in which alopecia is present . C, Representation of putative cholesterol transport and trafficking routes in hair follicle keratinocytes.…”

“…[107] Mutations to MBTPS2 are associated with IFAP and KFSD in which alopecia is present. [116][117][118][120][121][122][123][124][125][126][127] C, Representation of putative cholesterol transport and trafficking routes in hair follicle keratinocytes. Uptake of cholesterol is represented by the presence of the LDL receptor (LDLR) and scavenger receptor class B member 1 (SRB1) on the plasma membrane.…”

Keratosis Follicularis Spinulosa Decalvans: A New Observation

“…For symptomatic relief emollients, topical steroid, and keratolytic agents can be used [4]. Different systemic treatments including isotretinoin, etretinate, dapsone and antibiotics have been tried with varied results it is suggested that the use of retinoids in the early and more active phase of the disease, when histopathology shows perifollicular infiltrate, can bring some benefit [4,6,7]. Treatment is even more disappointing when the disease predominantly shows cicatricial changes, as in this present study [8].…”

“…KFSD results from mutations in the MBTPS2 gene. Mutations in this gene also underlie ichthyosis follicularis, alopecia and photo- phobia syndrome [4]. The differential diagnosis of KFSD include icthyosis follicularis alopecia photophobia (IFAP) syndrome (which is characterized by non-scarring alopecia), lichen planopilaris, and lichen spinulosus.…”

“…Various drugs have been tried to delay scarring alopecia such as isotretinoin [6] and dapsone [7]. For symptomatic relief emollients, topical steroid, and keratolytic agents can be used [4]. Different systemic treatments including isotretinoin, etretinate, dapsone and antibiotics have been tried with varied results it is suggested that the use of retinoids in the early and more active phase of the disease, when histopathology shows perifollicular infiltrate, can bring some benefit [4,6,7].…”