54 citations
,
January 1983 in “Archives of Dermatology” This article presents two cases of keratosis follicularis spinulosa decalvans and reviews its features, highlighting characteristic progression from keratosis pilaris in infancy to cicatricial alopecia in childhood.
47 citations
,
December 2020 in “Journal of the European Academy of Dermatology and Venereology” This article reviews the classification, diagnosis, and management of hair disorders, emphasizing the role of trichoscopy and early diagnosis for effective treatment but reports no new clinical findings.
41 citations
,
January 1992 in “Journal of medical genetics” This study described seven male patients and six female carriers of keratosis follicularis spinulosa decalvans, highlighting distinct dermatological and ophthalmic markers including follicular hyperkeratosis and corneal dystrophy.
35 citations
,
January 2008 in “American Journal of Clinical Dermatology” This case report further supports the association of keratosis follicularis spinulosa decalvans with acne keloidalis nuchae and tufted hair folliculitis.
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” This case report describes a family with autosomal dominant transmission of keratosis follicularis spinulosa decalvans, with observed treatment refractoriness in multiple topical and systemic therapies.
18 citations
,
October 2012 in “Dermatologic Clinics” This article discusses primary cicatricial alopecias, a group of rare inflammatory scalp disorders resulting in permanent hair loss, and reports no new findings.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
3 citations
,
April 2011 in “Journal of the American Academy of Dermatology” This article describes a unique case of unilateral keratosis pilaris atrophicans faciei in a 19-year-old man, noting its clinical similarity to follicular mucinosis, but presents no new general findings.
1 citations
,
January 2015 in “Journal of clinical case reports” This case report describes two siblings with Keratosis Follicularis Spinulosa Decalvans, illustrating its manifestations in a 9-year-old boy and a 5-year-old girl.
1 citations
,
April 2010 in “Expert Review of Dermatology” This review discusses primary cicatricial alopecias, detailing their classification, pathogenesis, clinical features, histopathologic findings, and treatment, without reporting new experimental results.
December 2023 in “Journal of dermatology” This study examined the clinicopathologic and trichoscopic characteristics of keratosis follicularis spinulosa decalvans and identified terminal hair involvement and follicular hyperkeratosis as key diagnostic features.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
January 2022 in “Clinical dermatology review” This case report documents a 10-year-old girl with keratosis follicularis spinulosa decalvans, highlighting its rarity, particularly in females, and noting limited treatment success.
May 2017 in “InTech eBooks” This review discusses various types of primary cicatricial alopecias, categorized by the predominant type of inflammatory cells involved, and reports no new clinical results.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” This paper describes a rare case of keratosis follicularis spinulosa decalvans in a nine-year-old girl, a condition typically more severe in males due to its X-linked inheritance.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
4 citations
,
September 2015 in “JAAD case reports” This article reviews the characteristics and inheritance patterns of keratosis follicularis spinulosa decalvans, but it does not present new clinical findings, noting the disease's complex and poorly understood pathogenesis.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
September 1998 in “Journal of The European Academy of Dermatology and Venereology” Topical 5α-reductase inhibitor helps counteract hair loss and stabilize it.
78 citations
,
April 1994 in “Archives of dermatology” This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.
13 citations
,
January 2021 in “Histochemistry and Cell Biology” In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.
1 citations
,
May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
January 2026 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” In this study, cicatricial alopecias were classified by inflammatory cell type and the researchers highlighted that primary cicatricial alopecia's exact causes remain unknown, accounting for 6% of all hair diseases despite its unclear prevalence.
150 citations
,
October 2010 in “The American Journal of Pathology” This review discusses the pathogenesis and challenges in treating primary cicatricial alopecia, highlighting the need to understand immune protection collapse in hair follicle stem cells; it reports no new clinical results.
98 citations
,
May 2008 in “British Journal of Dermatology” This review discusses evidence-based guidance for managing primary cicatricial alopecias but reports no new clinical results, highlighting significant gaps in knowledge and the need for more quality trials.
90 citations
,
June 2006 in “The American Journal of Dermatopathology” This review outlines the classification, histopathologic presentation, and pathogenetic concepts of scarring and nonscarring alopecias, reporting no new clinical results and emphasizing the need for clinicopathologic correlation.
65 citations
,
November 2016 in “Journal of The American Academy of Dermatology” This article reviews various types of primary cicatricial alopecias and emphasizes the importance of accurate diagnosis to improve management strategies, particularly detailing remaining lymphocytic forms and expanding on neutrophilic and mixed types.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
44 citations
,
November 2011 in “The Journal of Dermatology” This review discusses recent advancements in the management and diagnosis of primary cicatricial alopecias but reports no new clinical results; emerging insights suggest sebaceous gland dysfunction may play a role in their etiopathogenesis.
30 citations
,
July 2010 in “Experimental Dermatology” This article reviews the role of polyamines in hair follicle growth and discusses potential therapeutic applications but provides no new clinical results.