99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
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.
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.
3 citations
,
July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
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.
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.
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.
May 2026 in “International Journal of Drug Delivery Technology” This case study highlights Erythromelanosis follicularis faciei et colli as an easily overlooked pigmentary disorder characterized by a distinctive triad requiring precise diagnosis for effective patient counseling and cosmetic management.
14 citations
,
December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
1 citations
,
September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” This paper presents a case of a young male with a family history, showing overlap between ulerythema ophryogenes and keratosis follicularis spinulosa decalvans, affecting both eyebrows and scalp with cicatricial patchy alopecia.
75 citations
,
September 1985 in “Archives of dermatology” This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
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.
25 citations
,
May 1995 in “Journal of the American Academy of Dermatology” This article reports two new cases of erythromelanosis follicularis faciei in women and includes a literature review on this rarely diagnosed condition.
5 citations
,
January 2016 in “Skin appendage disorders” This case report describes a rare occurrence of lichen planopilaris on the face in a 45-year-old man, contributing to the limited existing cases in the literature.
3 citations
,
September 2021 in “Experimental and Therapeutic Medicine” This study described the clinical characteristics of keratosis pilaris atrophicans faciei in 14 patients, noting that earlier diagnosis may enable more targeted treatment options.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
July 2018 in “Nasza Dermatologia Online” The authors report two clinical cases of scarring alopecia in a mother and daughter, suggesting a potential link between frontal fibrosing alopecia and ulerythema ophryogenes.
April 2012 in “Journal of evolution of medical and dental sciences” This report describes a rare case of papular atrichia in a 4-year-old girl, highlighting the absence of effective treatment to stimulate hair growth for this condition.
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.
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.
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.
54 citations
,
November 1986 in “Journal of the American Academy of Dermatology” This case report identifies a potential new syndrome characterized by trichoepitheliomas and alopecia, which may be associated with myasthenia gravis.
23 citations
,
February 2015 in “The American journal of pathology” This study found that the absence of sebaceous glands may be an early factor in the development of keratosis pilaris, leading to hair shaft and skin barrier abnormalities, independent of filaggrin mutations.
July 2023 in “Journal of Clinical Medicine” This paper identifies challenges in diagnosing alopecia variants, emphasizing the importance of pathologists understanding hair follicle histology, biopsy types, and collaborating with dermatologists to improve diagnostic accuracy.
1 citations
,
January 2019 in “Pan African Medical Journal” This case report describes a 30-year-old woman with keratosis pilaris treated with emollients and keratolytics, resulting in slight improvement.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
October 1961 in “Archives of Dermatology” This report describes a case of dermatitis herpetiformis where symptoms resolved with continuous sulfapyridine therapy after persisting despite other treatments.
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.