research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
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research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Multiple and Recurrent Ocular Manifestations in a Patient of Vogt-Koyanagi-Harada Syndrome
Young patients with Vogt-Koyanagi-Harada syndrome may have poor vision outcomes despite treatment due to frequent recurrences.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research Hair thread tourniquet syndrome in a male infant: a rare surgical emergency
A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research A novel finding of hair growth like vellus hairs on glabrous skin of distal phalanx of thumb in Vogt–Koyanagi–Harada disease: A case report
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
research Polyglandular Autoimmune Syndrome Type 3D : A Case Report
Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research Black Hairy Tongue: A Case Report
Improving oral hygiene and quitting smoking can resolve black hairy tongue.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.