research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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630-660 / 1000+ resultsresearch S1:05 Cutaneous lupus subtypes: the tissue response influences the phenotype
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
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 Skin, a mirror reflecting diabetes mellitus: A longitudinal study in a tertiary care hospital in Gujarat
Skin problems are common in people with diabetes and controlling blood sugar can reduce these issues.
research P050 Rapidly worsening subcutaneous oedema in a young boy: a case of juvenile dermatomyositis
Juvenile dermatomyositis can worsen quickly and needs strong treatment.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research IMMUNOHISTOCHEMICAL DEMONSTRATION OF POLY(ADENOSINE DIPHOSPHATE‐RIBOSE) SYNTHESIS IN HUMAN SKIN
Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Glycerol Regulates Stratum Corneum Hydration in Sebaceous Gland Deficient (Asebia) Mice
Glycerol is essential for skin hydration in mice without sebaceous glands.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.