research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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240-270 / 1000+ resultsresearch Pathogenesis of graft-versus-host-disease
Graft-versus-host disease occurs when donor immune cells attack the recipient's body, causing skin, gut, and liver damage.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Crosstalk between vimentin and keratins in viral infection: Implications across the viral life cycle
Vimentin and keratin help viruses spread and could be targets for antiviral treatments.
research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.
KFSD causes scarring hair loss and skin roughness, mainly in males.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Eruptive Vellus Hair Cysts: Report of a New Case with Immunohistochemical Study and Literature Review
Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research G616(P) Cutaneous manifestations of chronic kidney disease in paediatrics in a tertiary children’s hospital in sudan
Skin changes are common in children with chronic kidney disease.