36 citations
,
July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
3 citations
,
June 2002 in “PubMed” This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
109 citations
,
October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
1 citations
,
November 2003 in “SKINmed Dermatology for the Clinician” This case report describes a 17-year-old patient diagnosed with Netherton syndrome, characterized by pruritic dry skin, short brittle hair, and elevated IgE levels, treated with antihistamines and emollients.
1 citations
,
January 2016 in “Journal of Nepal Paediatric Society” This case report discusses a 27-month-old girl with vitamin D-dependent rickets type II, who showed minor improvement in skeletal features and alopecia after high-dose oral calcium and vitamin D3 treatment.
1 citations
,
June 2016 in “Medicina” This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.
5 citations
,
March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
January 2023 in “Indian dermatology online journal” This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.
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.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
82 citations
,
October 1980 in “The Journal of Clinical Endocrinology & Metabolism” This case study describes a child with an unusual form of vitamin D-dependent rickets, characterized by alopecia and a deficient response to active vitamin D.
44 citations
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September 1948 in “Radiology” This article reports that hypervitaminosis A in both experimental rats and children leads to severe symptoms such as weight loss, bone issues, and skin problems, which resolve upon stopping vitamin A intake.
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.
In this case study, a 12-month-old girl presenting with apyretic seizure and congenital alopecia was diagnosed with hereditary vitamin D-resistant rickets, highlighting the importance of comprehensive evaluation for accurate diagnosis.
5 citations
,
December 1964 in “Australasian journal of dermatology” This article discusses congenital atrichia and presents no new clinical findings.
7 citations
,
February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
6 citations
,
January 2008 in “Indian Journal of Dermatology” This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
17 citations
,
April 1997 in “American Journal of Dermatopathology” This report provides the first microscopic description of pachyonychia congenita-associated alopecia, identifying a combination of histological features that might be unique to this condition.
5 citations
,
August 1925 in “Archives of dermatology” This article presents a case of an 8-year-old boy with Recklinghausen's disease showing features such as café-au-lait spots, alopecia, and developmental anomalies, but reports no new findings beyond observation.
82 citations
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April 1981 in “Clinical endocrinology” This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.
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.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” In this report, a newborn female with bilateral symmetrical alopecia lesions was diagnosed with congenital triangular alopecia, an unusual presentation, highlighting the disorder's benign nature and the importance of early recognition and conservative management.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” In this study, an 11-year-old girl with acrodermatitis enteropathica showed significant improvement in symptoms after oral zinc therapy.
24 citations
,
January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
4 citations
,
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews the skin, hair, nail, and mucosal changes linked to various pediatric endocrine disorders but provides no new clinical findings.
372 citations
,
December 2004 in “Nature Genetics”