research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
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660-690 / 1000+ results research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Solitary Keratoacanthoma of the Scalp: A Case Report
Surgical removal of a scalp keratoacanthoma is effective and prevents recurrence, but hair may not regrow.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research Nasal sporotrichosis in children
Three children with nasal fungal infections were successfully treated with potassium iodide and sometimes itraconazole.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Segmental cherry angiomas associated with extragenital lichen sclerosus: A report of two cases
Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
research Vogt-Koyanagi-Harada disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C
Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Kerion: an unusual presentation in the otolaryngology department
A fungal infection in the neck caused severe breathing issues, treated successfully with antibiotics and antifungal medication.
research High-risk cutaneous squamous cell carcinoma in a Japanese allogeneic bone marrow transplant recipient on long-term voriconazole
A Japanese bone marrow transplant patient developed a rare skin cancer possibly linked to long-term use of the medication voriconazole.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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 A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Delayed granulomatous eruption of the nose associated with ruxolitinib
Ruxolitinib can cause a delayed skin reaction on the nose.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.