research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
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330-360 / 1000+ results research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
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 Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A RARE CASE OF CHRONIC ACRODERMATITIS ENTEROPATHICA PERSISTING AND RECURRING IN THE ADULT AGE
Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.
research Role of the nail and dorsoventral patterning in regeneration
Nails are essential for fingertip regeneration.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research Eccrine Duct Dilation as a Marker of Cicatricial Alopecia
Enlarged sweat gland ducts may indicate scarring hair loss.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Trichilemmal cyst of the eyelid: An unusual presentation in paediatric age group
Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
research Hair Evaluation in Orthodontic Patients with Oligodontia
Most orthodontic patients with missing teeth also have hair disorders.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Association between digit ratio (2D:4D) and palmaris longus muscle agenesis according to gender: a radiological study
Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Disorders of the skin appendages
The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
research Isolated long white eyelash: An underrecognized trichologic finding
A single long white eyelash is a rare but benign condition.
research Warty Dyskeratoma Involving Two Adjoining Follicles
A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.