2 citations
,
June 2013 in “Journal of Dermatological Case Reports” This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
January 2005 in “Journal of Cutaneous Pathology” This report presents the first known case of a proliferating hybrid cyst containing both epidermoid and trichilemmal components on the scrotum of a 44-year-old man.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
9 citations
,
August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
53 citations
,
August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.
2 citations
,
January 2007 in “Journal of The American Academy of Dermatology” Red and infrared light therapy improves hair growth in balding patients.
January 2007 in “Journal of the American Academy of Dermatology” A 73-year-old man's grey-white hair turned dark brown after eczema treatment.
April 2020 in “International journal of research in dermatology” This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
34 citations
,
January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This report describes four trichoblastoma cases rich in Merkel cells, suggesting these tumors may mimic fetal skin development where Merkel cells are numerous.
4 citations
,
March 2024 in “Developmental Dynamics” In this study, researchers used conditional mouse models to show that inactivation of the Alx4 gene in specific cell lineages leads to craniofacial and limb defects without affecting postnatal survival, providing insights into Alx4's role in development and disease.
February 2022 in “Authorea (Authorea)” This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
1 citations
,
November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” This case study describes a 12-year-old boy with an unruptured epidermal inclusion cyst on his cheek, highlighting the role of dermatoscopy in diagnosing and differentiating cyst types for treatment.
This chapter reviews the clinical and morphological diagnostic features of various hair dysplasias, including atypical pili torti, pseudomonilethrix, and trichothiodystrophy, and reports no new results.
January 2022 in “Indian journal of paediatric dermatology” This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.
18 citations
,
January 1992 in “Dermatology” This case report details atrichia with papular lesions in a 4-year-old girl, highlighting specific histological findings on her scalp and other affected areas.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” This report describes a rare case of congenital generalized hypertrichosis terminalis in a six-year-old boy with gingival hyperplasia, a coarse face, congenital hydronephrosis, and a heterozygous deletion on chromosome 17q12.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
3 citations
,
December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
1 citations
,
January 1986 in “PubMed” This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
September 2023 in “Cutis” This study presents a case of a 6-month-old infant girl with hypotrichosis and an alopecic plaque in the occipital region, characterized by broken and dystrophic hairs with follicular papules and perifollicular hyperkeratosis, suggesting a diagnostic consideration.
29 citations
,
February 1989 in “Journal of Cutaneous Pathology” This case report identifies a new type of hair matrix tumor called "rippled pattern trichomatricoma," distinguished by its unique cell arrangement and differentiation features.
1 citations
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May 2017 in “Molecular and Clinical Oncology” This study reports a rare case of an epidermal cyst localized in the temporal bone, potentially as a complication of myringoplasty, marking only the fifth such report in English-language literature.
June 2025 in “Histopathology” This study found that in superficial angiomyxomas, S100A4-positive mesenchymal niches may induce non-neoplastic adnexal epithelial growth, and highlighted evidence of mesenchymal-to-epithelial transition in eccrine duct branching, especially in Carney's complex cases.