research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
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420-450 / 1000+ results research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Genetics Poly Cystic Ovary Syndrome
PCOS is a hereditary disorder that can lead to diabetes and heart disease if not treated early.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.