January 2022 in “Indian dermatology online journal” This case report describes a preterm newborn with lamellar ichthyosis, detailing management with acitretin, vitamin D, and emollients, and emphasizes the importance of regular monitoring due to potential adverse effects of long-term retinoid therapy.
15 citations
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September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
63 citations
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April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
January 2021 in “Skin Appendage Disorders” November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
2 citations
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March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
5 citations
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September 2012 in “Journal of Investigative Dermatology” This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.
12 citations
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March 2013 This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.
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.
3 citations
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May 2017 in “BMJ Case Reports” This case report details a 15-year-old boy who developed iatrogenic Cushing’s disease with severe complications after prolonged treatment by an untrained practitioner for persistent erythroderma.
September 2022 in “IP Indian journal of clinical and experimental dermatology” This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.
34 citations
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December 1984 in “Journal of Cutaneous Pathology” This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.
3 citations
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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.
4 citations
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May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” This study reported dramatic improvements in five collodion baby patients with lamellar ichthyosis treated with oral retinoic acid, noting hair loss as the sole adverse effect, emphasizing the treatment's promising efficacy for physicians.
20 citations
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January 2009 in “International Journal of Dermatology” This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
6 citations
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October 2001 in “British Journal of Ophthalmology” This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.
January 2021 in “Dermatology online journal” This case report describes a 2-year-old girl with loose anagen syndrome type B, confirmed by painless trichoscopic examination, with no signs in her identical twin sister.
1 citations
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October 2021 in “Australasian Journal of Dermatology” This letter to the editors describes a case of diffuse congenital hypotrichosis simplex with associated hair shaft fragility but reports no new clinical findings.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
5 citations
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January 2015 in “Dermatology” This report describes a rare case of angiokeratomas on both the upper eyelids and scrotum, adding to the limited literature on eyelid occurrences and discussing potential causes.
May 2026 in “Journal of International Medical Research” This case report describes a 4-year-old patient with complete hair loss and keratotic papules, leading to a diagnosis of atrichia with papular lesions, underscoring diagnostic challenges in resource-limited settings and suggesting a clinical framework for identifying this condition, especially in consanguineous families.
33 citations
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January 2000 in “Acta Oto-Laryngologica” In this study, epidermal growth factor (EGF) was shown to increase the length of rat organ of Corti segments containing supernumerary hair cells, with the effect peaking at birth and independent of cell division.
May 2015 in “European Journal of Paediatric Neurology” This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.
July 2025 in “Journal of Dermatology Research Reviews & Reports” In this case study, a 10-year-old girl with infantile ophiastic alopecia areata and ciliary madarosis showed excellent hair and eyelash regrowth after 56 days of treatment involving oral corticosteroids, topical minoxidil, and clobetasol hair lotion, following an initial diagnosis and psychological evaluation.
7 citations
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January 2014 in “Case reports in pediatrics” This report discusses a case of hair toe tourniquet syndrome in an infant and emphasizes the importance of early diagnosis and treatment to prevent severe complications.