April 2025 in “Indian Journal of Paediatric Dermatology” This case report describes a 7-month-old girl diagnosed with acrodermatitis enteropathica, linked to low zinc levels, whose skin lesions improved significantly after zinc supplementation.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
7 citations
,
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.
6 citations
,
December 2015 in “International journal of immunopathology and pharmacology” A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
June 2014 in “The Journal of Dermatology” This article describes a case of a patient with both ophiasis-type alopecia areata and ring chromosome 18 syndrome but reports no new research findings.
36 citations
,
August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.
12 citations
,
March 1981 in “International Journal of Dermatology” This case study reports that selenium shampoo, bacterial infection with trichomycosis axillaris, and possibly strongyloides larvae may have contributed to acquired hair shaft abnormalities resembling trichorrhexis nodosa in two patients.
2 citations
,
August 2014 in “Journal of the American Academy of Dermatology” This case report details a Taiwanese woman with scleredema adultorum and diabetes mellitus experiencing loss of eccrine glands, which led to frequent heat strokes and anhidrosis despite treatment.
July 2026 in “Indian Journal of Dermatology Venereology and Leprology”
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
12 citations
,
January 2013 in “Indian dermatology online journal” This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.
31 citations
,
April 2005 in “American journal of ophthalmology” This case report identified lash ptosis as a potential complication of latanoprost therapy in a 61-year-old man with ocular hypertension.
February 2021 in “PubMed” This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” This report discusses a teenager with blistering of localized epidermolysis bullosa simplex—Weber Cockayne type, recommending referral to dermatology, and includes no new clinical trials or broader conclusions.
4 citations
,
January 2017 in “PubMed” This report describes a rare case of acquired eyelash trichomegaly in a 16-year-old female with systemic lupus erythematosus, accompanied by diffuse hair loss and "lupus hairs" on the scalp.
10 citations
,
January 1995 in “Dermatology” This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
2 citations
,
January 2014 in “Indian dermatology online journal” This report describes a case of isolated congenital atrichia combined with nevus flammeus.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
11 citations
,
November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
23 citations
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September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report describes successful CO2 ablation treatment of porokeratotic adnexal ostial nevus in an 8-year-old boy, with marked improvement over a 12-year follow-up.
30 citations
,
May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
20 citations
,
April 2000 in “Experimental dermatology” This study observed that overexpression of the enzyme ODC in transgenic mice caused hair loss and skin changes similar to human papular atrichia, suggesting that ODC might be involved in a critical hair follicle function pathway.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
22 citations
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May 2007 in “Molecular Biotechnology” July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
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.