9 citations
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October 1995 in “Clinical Dysmorphology” This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.
July 2023 in “Indian Journal of Sexually Transmitted Diseases and AIDS” This case study reports that moth-eaten alopecia and a macular rash, along with positive histopathology and serology tests, indicated a diagnosis of secondary syphilis in a 24-year-old male patient.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
26 citations
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January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
January 2022 in “Clinical Cases in Dermatology” This article reviews the causes, characteristics, and treatment options for seborrheic dermatitis, discussing its prevalence in specific populations, without providing new research findings.
2 citations
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January 2023 in “Brazilian Journal of Development” This report describes a Sapajus nigritus investigated for multiparasitism after rescue from illegal home possession, highlighting public health and biodiversity conservation concerns related to human-primate proximity.
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” This case report describes a patient with mucous membrane pemphigoid who experienced recurrent blisters and cicatricial alopecia, showing improvement with prednisolone and dapsone treatment.
March 2023 in “Pediatrics & neonatology” This case study reported a successful surgical excision of two cephalocele lesions in a female neonate, resulting in uneventful recovery and appropriate neurodevelopment during a seven-month follow-up.
3 citations
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May 2013 in “Pediatric Dermatology” This case report documents the second known instance of a salivary gland choristoma on the chest wall of a newborn, highlighting its benign nature and the importance of accurate diagnosis.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
18 citations
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February 2006 in “Brain & development” This case study reports successful treatment of a 19-year-old with Satoyoshi syndrome using a combination of carbamazepine, methotrexate, prednisolone, and sex-steroids, improving muscle spasms, alopecia, and quality of life.
17 citations
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January 2011 in “Indian journal of dermatology, venereology, and leprology” This paper describes a rare case of keratosis follicularis spinulosa decalvans in a nine-year-old girl, a condition typically more severe in males due to its X-linked inheritance.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
33 citations
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September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
7 citations
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March 2023 in “European Journal of Dermatology” Using Selenium Disulfide shampoo weekly helps prevent scalp dermatitis flare-ups.
5 citations
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January 2021 in “Indian Journal of Pathology and Microbiology” This case report describes a rare occurrence of a solitary fibrofolliculoma in the right lower eyelid of a 50-year-old man, confirmed through histopathological examination.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
December 2024 in “Veterinary Dermatology” This case report identified cutaneous epitheliotropic T-cell lymphoma in a 3-year-old male sugar glider after skin biopsies, highlighting the need for thorough diagnostic evaluations in exotic pets.
January 2014 in “Revue des Maladies Respiratoires” This study confirmed significant and dramatic ophthalmic and mucocutaneous sequelae from Stevens-Johnson and Lyell syndromes in Morocco, affecting the social and professional integration of mostly young patients.
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.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
1 citations
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January 2026 This study reveals that the microRNA-200 family, highly enriched in hair matrix progenitors, restricts sebaceous gland development by inhibiting the SOX9-dependent lipogenic program, highlighting its specific role in epithelial plasticity within hair follicles.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
September 2019 in “Journal of Investigative Dermatology” This study introduced a reproducible human model using 3D-SeboSkin technology to study hidradenitis suppurativa, allowing better maintenance of skin integrity and replication of biomarker expression patterns compared to traditional skin cultures, suggesting its value for further research.
July 2024 in “Romanian Journal of Veterinary Sciences” This study found that cyclosporine treatment led to clinical improvements in dogs with sebaceous adenitis, with noticeable benefits within four months and more substantial outcomes after 12 months of continuous therapy.
21 citations
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June 1991 in “Journal of Inherited Metabolic Disease” This case report observed that a selenium-deficient diet in a child with propionic acidaemia led to macrocytosis and hair abnormalities, which improved with selenium supplementation.
3 citations
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January 2021 in “International journal of general medicine” This case report describes an 8-year-old boy with impetigenic scabies on his scalp, which responded well to treatment with topical permethrin, oral antihistamines, and antibiotics.
3 citations
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May 2023 in “Pediatric Dermatology” This case report describes a 9-year-old boy with atypical alopecic and aseptic nodules of the scalp, suggesting possible inclusion within the spectrum of typical AANS and DCS due to its prepubertal onset and facial involvement.
15 citations
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August 2002 in “British Journal of Ophthalmology” This paper discusses a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, but surgical excision remains the standard for curative treatment and margin evaluation.