August 2022 in “Journal of Pakistan Association of Dermatologists” This case report describes a 7-year-old female from the Middle East with monilethrix, highlighting the disease's rarity in this population, characterized by brittle, sparse hair and keratosis pilaris.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
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.
1 citations
,
July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
8 citations
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September 2016 in “The American Journal of Dermatopathology” This study found that eccrine duct dilation is significantly more frequent in cicatricial alopecias compared to noncicatricial alopecias, possibly due to the scarring process.
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.
16 citations
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April 2000 in “Contact dermatitis” In this report, a 19-year-old Japanese man experienced severe and prolonged urticarial reactions following treatment with diphenylcyclopropenone for alopecia universalis, emphasizing the need for caution with potent sensitizers.
33 citations
,
August 2000 in “Experimental Cell Research”
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
7 citations
,
April 2004 in “International Journal of Dermatology” This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
April 1980 in “Archives of Dermatology” This case study reported normal hair structure under polarized light microscopy in a 70-year-old man with zinc deficiency, contrasting with previous findings in acrodermatitis enteropathica.
4 citations
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January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
35 citations
,
September 2006 in “American Journal Of Pathology” In this study, researchers found that overexpression of the Hedgehog signaling effector Gli2 in mice led to odontogenic keratocysts development, implicating GLI transcription factors in human keratocyst pathogenesis.
32 citations
,
September 2003 in “European journal of oral sciences” This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.
October 2019 in “European Journal of Dermatology” This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
November 2021 in “CRC Press eBooks” This article reviews various congenital and acquired hair shaft disorders, examining their characteristics and potential links to wider health conditions, but does not present any new clinical results.
4 citations
,
May 2020 in “The journal of pediatrics/The Journal of pediatrics” This case report details the diagnosis of monilethrix in a 4-year-old boy, characterized by brittle hair and specific dermoscopic findings, and highlights the condition's hereditary nature and management through avoiding mechanical hair damage.
16 citations
,
July 2017 in “Journal of American Association for Pediatric Ophthalmology and Strabismus” In this study, both the Fox and modified Crawford frontalis sling techniques effectively improved ptosis and cosmetic appearance, with the modified Crawford technique resulting in less lagophthalmos.
8 citations
,
January 2008 in “Pediatric dermatology” Hair gels may cause split ends in children.
2 citations
,
August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
6 citations
,
July 2008 in “Clinical and experimental optometry” This case report describes a rare complication of prostaglandin analogue eye drops for glaucoma, where a patient experienced extensive unwanted malar hair growth, leading to potential therapy discontinuation.
2 citations
,
January 2016 in “Journal of clinical & experimental dermatology research” This case report describes a child with acrodermatitis enteropathica showing dramatic improvement with oral zinc therapy, highlighting the importance of early diagnosis and treatment to prevent severe outcomes.
130 citations
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April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
5 citations
,
March 1981 in “PubMed” This case report details a 2-year-old girl who developed hypertrichosis on areas of her skin affected by multiple insect bites and subsequent scratching, resulting in unusual hair growth.
3 citations
,
September 2016 in “Pediatric Dermatology” This case study reports that hypertrichosis, although not always present, may be an important diagnostic clue for superficial epidermolytic ichthyosis in a young child.