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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 a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.

This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.

A specific gene mutation causes sparse, brittle hair in a family.

This case report details a 17-year-old girl experiencing intermittent swelling, pain, and decreased mobility in her right upper extremity with no clear traumatic or infectious cause, emphasizing diagnostic challenges due to inconclusive tests.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This case report documents a 44-year-old female with Down's syndrome who was diagnosed with both rheumatoid arthritis and gouty arthritis, highlighting her specific clinical presentation and treatment regimen.

This case report highlights the rare occurrence of overlapping syndromes including SLE, RA, and AAV in a patient with discoid lupus erythematosus, noting the persistent role of prior viral infection remains unclear.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

This report describes two cases of toe tourniquet syndrome in infants, highlighting the importance for pediatric orthopedic practitioners to diagnose and manage it promptly, suggesting a specific incision method to release hair strangulation if removal is challenging.

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.

Two siblings have a rare genetic condition causing curly, coarse hair.

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.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

This report describes two cases of hair tourniquet syndrome involving the thumb and toe, which were successfully treated without complications.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.

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.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.

This report describes a case of juvenile Rhupus syndrome in an 11-year-old girl, emphasizing the condition's rarity and the diagnostic challenges due to overlapping symptoms of juvenile idiopathic arthritis and systemic lupus erythematosus.

This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.

This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.

This study found that polycystic ovary syndrome was the most common cause of hirsutism among premenopausal Algerian women.