research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
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270-300 / 1000+ results research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research 190 A cross-sectional study evaluating skin, hair, nail and bone disease in patients with focal dermal hypoplasia
Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Pathologic Hairpulling, Skin Picking, and Nail Biting
Hairpulling, skin picking, and nail biting cause significant harm and need more research for better treatments.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Hair and Nail Manifestations of HIV Infection
HIV can cause hair loss and changes in nails, which may indicate disease progression.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Onycholemmal horn: A distinctive subungual tumour
Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
research Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus
miR-182 may help treat hallux valgus by targeting FGF9.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair"
Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Severe onycholysis in a card illusionist with alopecia areata universalis
Systemic steroids effectively treated severe nail issues in a card illusionist with alopecia areata.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.