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This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.

In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.

This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.

This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.

This case report describes a 37-year-old Filipino man with Cronkhite-Canada syndrome who improved after receiving nutritional support and medical treatment, despite the typically poor prognosis of the condition.

This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.

This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.

This case report presents an HIV-1 patient who experienced osteosclerosis and new bone formation potentially due to long-term indinavir therapy and concurrent use of vitamin A, with symptoms reducing after switching to nelfinavir.

This case report describes the development of halo naevi, vitiligo, and diffuse alopecia areata in a 33-year-old woman undergoing tocilizumab therapy, suggesting a link between these conditions and cellular and humoral immune factors.

This educational activity reports no new research findings; it aims to help physicians assess and improve their clinical skills through self-evaluation and continued medical education.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

This case report describes a 5-year-old girl with trichorrhexis nodosa and highlights the presence of isolated curly hairs on her scalp despite hair loss over four months.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.

This abstract is a navigation and policy notice for a website and does not contain any research findings.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study found that Wnt secretion is important for skin homeostasis in mice, as Evi-deficient mice developed skin lesions resembling psoriasis and showed immune cell imbalance.

This study found clinical markers like leukotrichia and trichrome lesions in non-segmental vitiligo patients were linked to greater disease extent and poor response to treatment.

This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.

This report describes a case of trichostasis spinulosa, a condition with pruritic, black papules on the face caused by keratotic plugs with embedded vellus hairs.

This article discusses vitiligo, reviewing its symptoms, possible causes, and classification, but reports no new clinical findings.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This article discusses the expression of vitamin D receptor in hair follicles and its role in alopecia, without presenting new findings; the authors highlight the involvement of Wnt/b-catenin signaling in hair growth.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This article reviews Vitamin D-dependent rickets Type II with a focus on alopecia as a potential diagnostic clue for this rare disorder, reporting no new clinical findings.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.