Results 1 to 10 of about 14,871 (251)
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V [PDF]
Frontiers in Genetics, 2021 Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc ...
Katja M. Eckl +15 more
doaj +10 more sources
Rare ocular manifestations in keratosis follicularis (Darier–White disease)
Indian Journal of Ophthalmology, 2017 Keratosis follicularis (Darier's disease) is a rare (1 in 30,000–100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings,
Savitha H Kanakpur, Divya Upendra Caculo
doaj +4 more sources
Dermoscopy of keratosis follicularis squamosa [PDF]
Dermatology Reports, 2011 Although the characteristic clinical appearance and the differences in distribution, it is often difficult to differentiate keratosis follicularis squamosa (Dohi) from other keratotic disorders. Here, we describe the case of a 5-year-old boy with Dohi in
Michiyo Nakano +5 more
doaj +6 more sources
Keratosis follicularis (Darier disease) - clinical characteristics and treatment - a review and update. [PDF]
Postepy Dermatol Alergol, 2023 Darier disease is one of the most common genodermatoses. Although Darier disease was described in 1886, targeted therapies remain unknown. Current literature lacks specific guidelines for treatment of Darier disease. Treatment remains symptomatic and may
Chyl-Surdacka K +4 more
europepmc +4 more sources
The Role of Trichoscopy in Keratosis Follicularis Spinulosa Decalvans: Case Report and Review of the Literature. [PDF]
Skin Appendage Disord, 2021 Introduction: Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X-linked, hereditary disorder of keratinization, characterized by skin involvement and progressive scarring alopecia of scalp, eyebrows, and eyelashes.
Alessandrini A +4 more
europepmc +4 more sources
Keratosis follicularis spinulosa decalvans: A dermoscopic perspective
Indian Journal of Paediatric Dermatology, 2020 Keratosis follicularis spinulosa decalvans (KFSD) is a rare follicular disorder characterized by widespread keratosis pilaris and progressive scarring alopecia of the scalp, eyebrows, and axillae.
Sudharani Chintagunta, Priyanka Jaju
doaj +3 more sources
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases.
Int J Trichology, 2015 Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.
Malvankar DD, Sacchidanand S.
europepmc +3 more sources
Indian Journal of Paediatric Dermatology, 2018 An 8‐year‐old female child borne out of nonconsanguineous marriage presented with progressive hair loss over scalp and eyebrows along with multiple pruritic follicular keratotic papules over most of the body part for the past 7 years.
Elangbam Nelson Singh +4 more
doaj +3 more sources
Substance P in keratosis follicularis spinulosa decalvans. [PDF]
JAAD Case Rep, 2015 Doche I +4 more
europepmc +4 more sources