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.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
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.
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.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” In this case report, a 3-year-old male with IFAP syndrome showed moderate improvement in skin symptoms and corneal erosions but no change in alopecia or photophobia after 6 months of acitretin therapy.
37 citations
,
September 2005 in “Australasian Journal of Dermatology” This case report describes a 27-year-old man with a unique association of keratosis follicularis spinulosa decalvans and acne keloidalis nuchae, successfully treated with oral isotretinoin.
36 citations
,
January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” This case study reports on a mother and daughter with ichthyosis follicularis, alopecia, and photophobia, noting consistent keratotic eruptions during the mother's pregnancies that improved postpartum.
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.
25 citations
,
April 2008 in “Clinical and experimental dermatology” This case series describes Erythromelanosis follicularis faciei et colli in five Indian patients, suggesting it may be more common than currently reported.
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.
21 citations
,
August 1991 in “Journal of the American Academy of Dermatology” This case report presents the first known instance of unilateral erythromelanosis follicularis faciei et colli in a white girl, contributing to the limited documented cases of this rare condition.
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.
14 citations
,
July 2012 in “Journal of the American Academy of Dermatology” This study found that topical tacalcitol improved roughness and scaling in erythromelanosis follicularis faciei et colli, although it was less effective for facial erythema.
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.
11 citations
,
June 2010 in “Dermatologic surgery” This article contains information about journal subscriptions and does not report any research findings.
10 citations
,
September 1994 in “International Journal of Dermatology” This case report describes three Iranian men with gradual reddish-brown pigmentation on their cheeks and preauricular areas since childhood, unresponsive to sunblocks and topical steroids.
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.
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.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” This report describes a rare case of a woman with keratosis follicularis presenting with extensive alopecia and nail abnormalities, adding to the medical literature due to its unusual presentation.
4 citations
,
November 2020 in “Case reports in dermatology” This report summarizes recent cases of the rare condition erythromelanosis follicularis faciei et colli to illustrate its varied clinical presentations.
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.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
3 citations
,
January 2015 in “Indian journal of paediatric dermatology” This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.
2 citations
,
March 2011 in “International Journal of Dermatology” This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.
1 citations
,
November 2022 in “International journal of trichology” This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.
1 citations
,
January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
1 citations
,
October 2019 in “European Journal of Dermatology” There are no new clinical results reported in this discussion of pityriasis rubra pilaris diagnosis and treatment, which notes frequent treatment failures and highlights reliance on clinical and histopathological findings.
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.