research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch Expanding the phenotype: Four new cases and hope for treatment in
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Comparative Study of Trichoscopic Features of Alopecia Areata between Adults and Children and between Different Body Parts (Scalp, Beard, Eyebrow, and Moustache)
Adults with alopecia areata often have empty follicular openings, while children show more honeycomb pigment patterns.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
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 Race and Ethnicity Sub-Groups of Alopecia Areata Patients have Differing Clinical Characteristics: TARGET-DERM AA
Alopecia areata severity and symptoms vary by race and ethnicity.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Combination therapy with oral PUVA and corticosteroid for recalcitrant alopecia areata
The combination of oral PUVA and corticosteroids helps regrow hair in severe alopecia areata.
research Treatment of Refractory Segmental Vitiligo and Alopecia Areata in a Child with Upadacitinib and NB-UVB: A Case Report
Upadacitinib and narrowband UVB effectively treated a child's vitiligo and alopecia areata.
research Localized Hair Repigmentation in a 91-Year-Old Woman
A 91-year-old woman's hair turned black in one spot, with skin changes underneath.
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 Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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 An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research A case of acute vision loss due to retinal arteriolar occlusion after forehead injection of triamcinolone acetonide
A woman lost vision in one eye after a forehead injection, but prompt treatment led to partial vision recovery.
research Hair and nail disorders
Hair and nail disorders can cause changes in scalp pigmentation, especially with sun exposure and alopecia.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Erythromelanosis follicularis faciei in women
Erythromelanosis follicularis faciei can also affect women, though it's rare.
research A comedonal variant of chronic cutaneous lupus erythematosus: Case report and literature review
Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
research Ulcerative colitis and total alopecia in a mother and her son
A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
research Desmoplastic melanoma presenting as an alopecic patch in a young patient
A man had a rare skin cancer that looked like a bald spot.
research Alopecia areata in childhood
Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.