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This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.

This case study describes a 29-year-old woman diagnosed with both systemic lupus erythematosus and Graves' disease, illustrating a specific combination of autoimmune conditions within Autoimmune Polyendocrine Syndromes.

This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.

This case report describes an infant with mucopolysaccharidosis type II who developed generalized hypertrichosis after receiving a bone marrow transplant and cyclosporine, highlighting the medication's potential role in exacerbating excessive hair growth and reviewing hypertrichosis causes.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.

This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.

In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.

This report describes a case of colonic adenomatous polyposis in a patient with Cronkhite-Canada syndrome, highlighting a deviation from the typically hamartomatous polyps and suggesting a need for further study.

This article reports on a family with six members diagnosed with monilethrix, highlighting varying degrees of alopecia linked to this rare hair shaft defect.

This case report details a French bulldog with congenital alopecia, featuring reduced hair follicles and epidermal abnormalities, which are typical of the condition.

This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.

This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.

This case report describes a 60-year-old man with a rare 46, XX karyotype who presented with cerebellar infarct and polycythaemia, leading to further endocrine investigations after adrenal gland enlargement was found.

This article discusses the connection between prenatal androgen exposure, marked by the second-to-fourth digit ratio, and seborrheic dermatitis, but reports no new experimental findings.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.

This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.