research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum)
Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research Trichostasis Spinulosa
The document found differences in lesion distribution and microscopic features among trichostasis spinulosa and similar skin conditions.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Turner's syndrome associated with psoriasis and alopecia areata
Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
research Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients
Thyroid disorders can cause skin issues in children, so early detection and screening are important.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Ashy Dermatosis
Ashy dermatosis may be linked to atopy and thyroid disease and can be treated with topical steroids.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Single-cell transcriptomics defines keratinocyte differentiation in avian scutate scales
The research identified two types of keratinocytes in chicken scales: one for hard scales and another for soft skin, with similarities to human skin differentiation.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research A Case of Fox-Fordyce Disease
The woman's skin condition improved with specific oral and topical treatments.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.