research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
Search
for
Sort by
Research
510-540 / 1000+ results research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Co-Occurrence of Pityriasis Amiantacea and Cutis Verticis Gyrata Secondary to Leukaemia Cutis of the Scalp
A rare scalp condition can occur due to leukemia affecting the skin.
research Eyelash Trichomegaly: Unusual Feature Associated with Systemic Lupus Erythematosus Patient
Long eyelashes in a patient were an unusual sign of systemic lupus erythematosus.
research Loose anagen hair syndrome in children of Upper Egypt
Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
research A solitary triangular alopecia
A five-year-old girl has a harmless, unchanging bald patch on her scalp.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research ALOPECIA LEPROTICA: ITS RELATIONSHIP TO TRANSMISSION OF LEPROSY
Leprosy is mainly contracted during infancy or childhood.
research Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues
RCM and dermoscopy help identify different types of hair loss in children.
research Lash Ptosis in Congenital and Acquired Blepharoptosis
Lash ptosis is more common and severe in people with congenital eyelid droop than in those with acquired eyelid droop or without eyelid droop.
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 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 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 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Finasteride-associated central retinal vein occlusion
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research Becker's Melanosis and Hypertrichosis*
Becker's Melanosis and Hypertrichosis mainly affects young males, causing brown skin patches and extra hair on one side of the upper body.
research ALOPECIA TRIANGULAR CONGÉNITA BILATERAL EN UN NEONATO: REPORTE DE CASO
The condition is harmless, doesn't worsen, and needs no invasive treatment.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.