In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
8 citations
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April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report details the first pediatric occurrence of naevus trichilemmocysticus, a newly defined type of organoid naevus.
56 citations
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October 2010 in “Pediatric Clinics of North America” This article discusses various types of epidermal nevi and associated syndromes but presents no new research findings.
November 2023 in “International Journal of Trichology” This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.
4 citations
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January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
18 citations
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December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
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.
June 2018 in “CRC Press eBooks” This article reviews congenital and developmental skin conditions in foals and reports no new clinical results; it notes that these conditions can be influenced by genetic and environmental factors.
4 citations
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May 1994 in “Neurology” This report describes a 3-year-old boy with a potential new neurocutaneous syndrome characterized by unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures.
7 citations
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January 2013 in “Indian dermatology online journal” This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.
3 citations
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March 2013 in “American Journal of Dermatopathology” This study found that ossification in trichilemmal cysts may be more common than previously thought, often associated with cyst wall rupture, and reports a novel case of ossifying TC with extramedullary hematopoiesis.
This study suggests that exogenous retinoic acid can alter the morphogenesis pathway of developing skin appendages when applied during the placodal stage, leading to changes like feather formation in atypical regions of chick embryos.
6 citations
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January 1997 in “Pediatric dermatology” This case report highlights a 21-year-old man with severe nodulocystic acne resistant to conventional treatments, who showed moderate improvement with isotretinoin, and discusses its potential link to congenital digital abnormalities and Apert syndrome.
July 2018 in “Kidney international” This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.
8 citations
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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.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
18 citations
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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.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
May 2020 in “International journal of dermatology and venereology” This study introduces the term "hair matrix cyst" for a cyst with both pilomatricoma and epidermal cyst characteristics, highlighting its potential for misdiagnosis among similar skin conditions.
69 citations
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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.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
1 citations
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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.
26 citations
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December 2013 in “Seminars in cell & developmental biology” This article reviews how anatomical differences in skin arise and persist, and suggests the underlying molecular positional code is more complex than apparent, but reports no new research findings.
October 2025 in “Indian Journal of Paediatric Dermatology” In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.
February 2026 in “bonndoc (University of Bonn)” This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.
3 citations
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March 1966 in “Archives of Dermatology” This study found that nevoid basal cell carcinomas originate in the epidermis and the upper part of the hair follicle, showing similarities to nonnevoid basal cell carcinomas.