research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
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research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Microscopic polyangiitis secondary to Mycobacterium abscessus in a patient with bronchiectasis: a case report
A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
research ANABOLIC ANDROGENIC STEROID USE DISORDER: A PUBLIC HEALTH ISSUE
Anabolic steroid misuse is a major health issue causing severe health problems and requires better awareness and monitoring.
research Pilomatricoma in the infraorbital region
Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
research A staged approach for complex scalp defects using titanium mesh and anterolateral thigh flaps: Two case reports
Using titanium mesh and thigh tissue is effective for complex scalp reconstruction.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Pilomatricoma on the Abdomen with Overlying Striae Distensae: A Unique Presentation
A rare case of a benign hair follicle tumor with unusual skin changes highlights the need for timely diagnosis to prevent potential cancer.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Genetic regulation of the androgen receptor—A study of testicular feminization in the mouse
The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
research Reply
AUC and APL are distinct conditions needing careful clinical assessment.
research Case 1: Intractable Rash in a 7-month-old Boy
The 7-month-old boy has a persistent rash that doesn't improve with typical skin treatments.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Clinical Presentations and Comorbidities of Pediatric Alopecia Areata
Pediatric alopecia areata needs more research to understand its characteristics and related conditions.
research Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
This case report describes a 5.5-year-old Palestinian girl with Ectodermal Dysplasia-Syndactyly Syndrome 1 (EDSS1), characterized by hypotrichosis, dental anomalies, nail hypoplasia, palmoplantar keratoderma, and syndactyly. The girl was treated with off-label topical minoxidil 2% and tretinoin 0.025%, resulting in increased hair density and thickness after 3 months, with sustained improvement over a 2-year follow-up. The treatment was well-tolerated, and the case suggests a potential role for topical retinoids in managing hypotrichosis in EDSS1, although further studies are needed to validate these findings.
research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
research Square-shaped alopecia after embolization of intracranial aneurysm: case report and review
Square-shaped hair loss can occur after treating a brain aneurysm due to localized radiation exposure.
research Male Accessory Sex Glands
Male accessory sex glands in rats rarely develop tumors and respond to hormones.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Sperm aneuploidy in infertile male patients: a systematic review of the literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research EXPLORATION OF THE MAHIYAT-E- MARAḌI (ETIOPATHOGENESIS) OF AMRĀḌ-E-SHA’R (HAIR DISORDERS) IN UNANI MEDICINE: A SYSTEMATIC LITERATURE REVIEW
Hair disorders significantly affect self-image, mental health, and quality of life.
research Surgical Management of Scalp Infantile Hemangiomas
Early surgical removal of scalp hemangiomas leads to good scarring and hair growth.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.