research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
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research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Distinct mechanisms underlie pattern formation in the skin and skin appendages
Different processes create patterns in skin and things like hair and feathers.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Did You Ever See a Creeping Hair?
A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
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 Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Epidermal Differentiation Complex: A Review on Its Epigenetic Regulation and Potential Drug Targets.
Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
research Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion
A rare skin condition caused droopy and outward-turning eyelids in a patient.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Eruptive vellus hair cysts treated with lactic acid: Case report and review of the literature
Lactic acid cream can help improve skin bumps known as eruptive vellus hair cysts.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development.
EGFR is essential for normal hair development and follicle differentiation.
research Atypical Pediatric Presentation of Pilomatricoma
Pilomatricomas should be considered to avoid misdiagnosis in children with unusual skin tumors.
research Extensive cerebral arteriovenous malformation presenting as a small cutaneous lesion on the forehead
A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
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 708 Polycomb-mediated repression and Sonic hedgehog signaling regulate Merkel cell specification
Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.