20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
1 citations
,
August 1981 in “The Journal of Dermatology” This study reported that defects in the hair cuticle were found in every case of major structural hair abnormalities examined.
November 2021 in “Skin appendage disorders” This case report describes the first known instances of male androgenetic alopecia with trichoteiromania, suggesting self-induced hair loss can occur alongside patterned miniaturization of hair.
August 2025 in “Skin Appendage Disorders” This case study observed that in a child with spontaneous trichonodosis, topical minoxidil and gentle hair care improved hair length and strength over two years, suggesting a potential genetic predisposition for the disorder.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
5 citations
,
November 2015 in “Turk Pediatri Arsivi-turkish Archives of Pediatrics” This report highlights a preterm newborn with hair-thread tourniquet syndrome affecting multiple toes, emphasizing the importance of early identification and removal to prevent severe complications.
47 citations
,
April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
88 citations
,
March 2004 in “Journal of Investigative Dermatology”
5 citations
,
March 2005 in “Journal of The American Academy of Dermatology” 208 citations
,
November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
5 citations
,
May 2019 in “Anais Brasileiros de Dermatologia” This article discusses the connection between prenatal androgen exposure, marked by the second-to-fourth digit ratio, and seborrheic dermatitis, but reports no new experimental findings.
14 citations
,
October 2001 in “British Journal of Ophthalmology” This case report suggests a successful outcome with intralesional cidofovir for SCC, although surgical excision remains the preferred treatment.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
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.
15 citations
,
April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
49 citations
,
April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
January 2023 in “Open journal of pediatrics” In this case report, a 7-month-old girl with suspected acrodermatitis enteropathica and severe dermatitis experienced a tragic outcome despite zinc treatment, highlighting the challenges of diagnosing and managing this rare genetic disorder.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
4 citations
,
April 1978 in “PubMed” This case study describes a six-month-old boy diagnosed with Netherton syndrome, featuring ichthyosiform erythroderma and alopecia, possibly linked to aminoaciduria.
2 citations
,
February 2021 in “PubMed” This case report describes a 25-year-old woman with alopecia areata and nail spooning, which regressed almost completely after treatment with oral corticosteroids.
20 citations
,
October 2001 in “British Journal of Ophthalmology” This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.
May 2020 in “JOJ Dermatology & Cosmetics” This report describes a rare case of Trichostasis Spinulosa on the heel, an uncommon location for this type of lesion.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
2 citations
,
February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
5 citations
,
April 2013 in “Nasza Dermatologia Online” This study reports no new clinical results on oral zinc therapy for acrodermatitis enteropathica but provides demographic data and symptom prevalence among thirty affected children.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
March 2021 in “Revista da Associação Médica Brasileira”