research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
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research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
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 Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
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 Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
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.
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 [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Unilateral Beau's Lines Associatd with a Fingertip Crushing Injury
A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.