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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
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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
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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
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Keratosis Follicularis Spinulosa Decalvans
Indian Journal of Dermatology, 1998 A 22 year old girl with keratosis follicularis spinulosa decalvans (KFSD) is reported. The skin lesions and histopathological findings were classical.
Ramanan Cherukot +2 more
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Case report: Multiple cryotherapy sessions in localized Darier's disease: a rare clinical presentation and literature review [PDF]
Frontiers in MedicineDarier's disease (DD), a rare hereditary acantholytic dermatosis with high penetrance but variable expressivity, has about 10% of its cases presenting as localized lesions, known as Localized Darier's Disease (LDD).
Yansi Lyu +4 more
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The association between Darier’s disease and schizophrenia : a case report [PDF]
European Psychiatry, 2023 Introduction Darier’s disease, also known as Darier-White disease or keratosis follicularis, is a rare autosomal dominant genodermatosis. Clinical experience has long suggested an association between neuropsychiatric abnormalities and Darier’s disease ...
M. Abdelkefi +5 more
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Darier-White Disease with Sensorineural Hearing Loss – A Case Report
Rwanda Medical Journal, 2022 Darier-White disease (keratosis follicularis) is a rare autosomal dominant genodermatosis characterized by hyperkeratotic papules and plaques in seborrheic areas, often presenting with nail abnormalities and occasionally mucous membrane changes ...
E. B. Henshaw +2 more
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MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
Journal of Translational Medicine, 2021 The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Natarin Caengprasath +3 more
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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
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