research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
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540-570 / 1000+ resultsresearch In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Nail Involvement in Pediatric Alopecia Areata: Clinical and Onychoscopic Features: A Serie of 42 Cases
Nail issues are common in kids with alopecia areata and should be checked for better diagnosis.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Epidermal cyst of temporal bone as a delayed complication of myringoplasty
An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.
research Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report
AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
research Parallels in signaling between development and regeneration in ectodermal organs
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Through a Nail Darkly
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 Brown shadow in lichen nitidus: A dermoscopic marker!
A brown shadow seen in dermoscopy is a marker for lichen nitidus.
research Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia
Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
research Heterogeneity of ornithine decarboxylase expression in 12-O-tetradecanoylphorbol-13-acetate-treated mouse skin and in epidermal tumors
ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
research Folliculosebaceous cystic hamartoma with hair shaft fragments.
A rare ear cyst contained hair fragments.
research Rancangan televisyen: Menyangga atau menyanggah bahasa dan budaya?
The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Structure and expression of the ovine Hoxc-13 gene
The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Keratinization of sheath and calamus cells in developing and regenerating feathers
Feathers become harder as they develop due to a change in keratin type.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Isosexual Precocious Pseudopuberty Secondary to a Testosterone-Secreting Leydig Cell Testicular Tumour: True Isosexual Development Early After Surgery*
A boy's early puberty caused by a testicular tumor returned to normal after surgery.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Hox in hair growth and development
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 Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.