July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
1 citations
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January 2015 in “Journal of nutrition & health” This study suggests that fish oil, specifically its components EPA and DHA, play a beneficial role in promoting skin health by supporting epidermal growth and reducing proinflammatory cytokines.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
68 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
36 citations
,
January 2012 in “International Journal of Trichology” This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.
25 citations
,
July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” This case report discusses dental considerations and management strategies for a 7-year-old girl with Ichthyosis Vulgaris; it presents no new clinical results and suggests early preventive therapies.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
7 citations
,
January 2020 in “Dermatology online journal” In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.
44 citations
,
January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
13 citations
,
January 2021 in “Histochemistry and Cell Biology” In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.
51 citations
,
July 2008 in “Dermatologic Therapy” This article proposes two new categories of cicatricial alopecia—“unstable” and “stable”—and suggests surgical excision as preferred over hair transplantation, especially for unstable cases.
16 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review explores new theories, diagnostic tools, and management strategies for primary cicatricial alopecia but reports no new clinical findings.
3 citations
,
January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
,
January 2013 in “Hair therapy & transplantation” This review discusses surgical and future therapeutic options for cicatricial alopecia and reports no clinical results; the authors emphasize the need for more options for patients without active disease signs.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.