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.
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research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research SUBEPIDERMAL CALCIFIED NODULE OF THE EAR IN A CHILD WITH HAIR FOLLICLE NEVUS
A 9-year-old boy had a calcium deposit nodule on his earlobe.
research 0884 Mis-relocation of mesenchymal niche leads to permanent radiotherapy-induced alopecia from stem cell exhaustion due to failed new stem cell formation
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Neonatal Occipito-Lınear and Temporo-Fronto-Parıetal Alopecıa: Can Non-Marginal and Marginal forms of the Transient Neonatal Hair Loss be Found Together?
A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
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 LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development
Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Congenital cutaneous lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Pediatric Radiation-Induced Alopecia Post Intracranial Vascular Malformation Embolization: A Case Report with Dermoscopic Findings
A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research Developmental Regulation of Prion Expression in Cattle and Mouse Embryonic Stem Cells
PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Homing of stem cells to sites of inflammatory brain injury after intracerebral and intravenous administration: a longitudinal imaging study
Stem cells can move to brain injury sites and be tracked, showing promise for treating brain diseases.