2 citations
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January 2007 in “Actas Dermo-Sifiliográficas” This case report describes a unilateral contact dermatitis caused by shoe dye containing 4-aminoazobenzene, which was confirmed with patch testing, highlighting its atypical presentation.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
January 2012 in “Case reports in pediatrics” This case study reports the first instance of localized acquired hypertrichosis in a pediatric patient following splint application after forearm surgery, with hair growth returning to normal within eight months.
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.
January 2012 in “Modern Plastic Surgery” This review discusses Toe Tourniquet Syndrome, a frequently misdiagnosed condition that can lead to necrosis if untreated, and calls for increased clinician awareness, but reports no new clinical findings.
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.
23 citations
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December 2008 in “Pediatric neurology” This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
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.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
84 citations
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June 1970 in “Journal of Investigative Dermatology” 4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
28 citations
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June 1998 in “Clinical Genetics” This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
September 2024 in “Cureus” This case report outlines a 10-year-old boy who experienced a six-year history of twenty-nail dystrophy, highlighting the importance of physical examination for early diagnosis and management of nail disorders, with his primary symptoms involving nail disfigurement and alopecia areata, but no other health issues.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
13 citations
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January 2001 in “Pediatric dermatology” This study reports pseudopili annulati in a dark-haired Chinese girl, identifying the unique appearance and structural characteristics of her hair without finding abnormalities in the cuticle and cortex.
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.
June 2024 in “Annals of Medicine and Surgery” This case report highlights the rare co-occurrence of Pili Annulati and Trichorrhexis Nodosa in a Syrian woman, underlining the need for further research into their relationship and treatment.
3 citations
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January 2018 in “Skin Appendage Disorders” This case report describes two instances of habit tic nail deformities associated with alopecia areata.
21 citations
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July 2005 in “European Journal of Emergency Medicine” This case report discusses hair-tourniquet syndrome in infants, emphasizing the importance of early diagnosis and treatment to prevent serious complications.
22 citations
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July 2006 in “Annals of The Royal College of Surgeons of England” This case report aims to raise physician awareness about 'toe-tourniquet' syndrome, which can lead to digit loss if not promptly treated, and to prevent its misdiagnosis as child abuse.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
2 citations
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January 1989 This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.
August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
1 citations
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August 2024 in “Pediatric Dermatology” In this report, researchers describe an unusual case of congenital pili multigemini, a hair follicle disorder, presenting on the eyebrow of a female infant, highlighting its rarity and atypical location.