research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
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research Retinoid Metabolism Is Altered in Human and Mouse Cicatricial Alopecia
Altered retinoid metabolism in cicatricial alopecia suggests a balanced vitamin A diet may prevent the condition.
research Efficacy of Upadacitinib in Treating Alopecia Areata, Atopic Dermatitis, and Th1 Comorbidities in Pediatric Patients: A Comprehensive Case Series and Literature Review
Upadacitinib is safe and effective for treating alopecia areata and atopic dermatitis in children.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Survey of pediatric dermatologist views on treatment for alopecia areata
Pediatric dermatologists have varied preferences for treating alopecia areata in children, with no standard FDA-approved treatments and some using JAK inhibitors despite risks.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research SnapshotDx Quiz: April 2022
Discoid Lupus Erythematosus causes scalp plaques that can lead to hair loss, and antimalarial drugs are effective treatments.
research A case of sarcoidal foreign body reaction to permanent makeup: the involvement of M2 macrophages
Steroid injections improved symptoms and hair regrowth in a woman with a reaction to permanent makeup.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Persistent Papular Plaques on the Face
Persistent papular plaques on children's faces need better understanding and treatment.
research Diaminodiphenyl Sulfone-Induced Hemolytic Anemia and Alopecia in a Case of Linear IgA Bullous Dermatosis
DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
research Majocchi’s Granuloma – The Great Mimicker: A Case Report
Majocchi’s granuloma should be considered when rashes don't improve with typical treatments.
research Granuloma annulare with alopecia areata in a 6-year-old girl: a case report
A young girl with skin and scalp conditions showed some improvement with treatment.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
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 341 A longitudinal study of cutaneous dermatomyositis
Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research ‘Follicular Swiss cheese’ pattern–another histopathologic clue to alopecia areata
The study concluded that a 'Swiss cheese' pattern in hair follicles is a useful sign for diagnosing alopecia areata.
research Targeted Knockout of β-Catenin in Adult Melanocyte Stem Cells Using a Mouse Line, Dct::CreERT2, Results in Disrupted Stem Cell Renewal and Pigmentation Defects
Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Annular alopecia areata: Report of two cases
Two people had unusual ring-shaped hair loss due to an autoimmune disorder.