21 citations
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December 2014 in “Pediatric Dermatology” The researchers reported that most cases of pediatric trachyonychia improved over time without regard to treatment type, based on follow-up with 11 children.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
7 citations
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September 2011 in “International Journal of Dermatology” This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.
25 citations
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February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
December 2025 in “EXPERIMENTAL & CLINICAL MEDICINE GEORGIA” This study describes Pseudopelade of Brocq as a rare and enigmatic scarring alopecia characterized by irregular hair loss patterns on the scalp, requiring exclusion of other conditions like lichen planopilaris and discoid lupus erythematosus for a specific diagnosis.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
18 citations
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June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.
2 citations
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January 1987 in “PubMed” This study reported three related cases of woolly hair syndrome transmitted as a dominant autosomal trait, characterized by fine, frizzy hair and general hair thinning.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
14 citations
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February 2007 in “The Journal of Bone and Joint Surgery” This case report describes successful treatment of an 11-week-old infant with hair thread tourniquet syndrome causing toe swelling, highlighting the condition's rarity and the critical need for prompt surgical intervention.
51 citations
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May 2004 in “American journal of ophthalmology” This study reports that poliosis can be an adverse effect of topical prostaglandin F2α analog therapy in patients treated for primary open angle glaucoma.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
November 2021 in “International journal of research - granthaalayah” This study presents additional data suggesting that the absence of nerve endings in certain segments of human hair follicles influences the asymmetrical distribution of electrical charges, as indicated by no precipitation of Potassium Ferricyanide crystals.
7 citations
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September 2014 in “Journal of the American Academy of Dermatology” This study reports that dermoscopy can improve the diagnosis of epidermal cysts by making small puncta visible, which are often missed during standard visual examinations.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
26 citations
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January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
December 1987 in “Pediatric Dermatology” This article describes a previously unreported hair anomaly associated with facio-genito-popliteal syndrome and does not present new clinical results.
June 2001 in “European Journal of Dermatology” This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.
May 2025 in “Indian Dermatology Online Journal” This case report highlighted two atypical childhood alopecia cases: congenital atrichia without papules and Bjornstad syndrome with alopecia areata; emphasizing diagnostic challenges, notably the absence of keratotic papules usually associated with congenital atrichia and the presence of alopecia areata in Bjornstad syndrome.
January 2022 in “Indian dermatology online journal” This case report presents the first documented instance in India of cutaneous amyloidosis causing pigmented papules on the ear pinna, with lesions resolving after treatment with topical tretinoin.
1 citations
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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.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
216 citations
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October 1997 in “American Journal of Ophthalmology” This study found that unilateral topical latanoprost use for glaucoma was associated with hypertrichosis and increased pigmentation of eyelashes in the treated eye compared to the untreated eye.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.