research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
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660-690 / 1000+ resultsresearch SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
People with certain hair disorders may also have missing permanent teeth.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research G338(P) Dermatological manifestations in children with chronic kidney disease in a tertiary care center: a case-control study
Children with chronic kidney disease often have skin, hair, and nail problems.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Early Onset of Central Centrifugal Cicatricial Alopecia (CCCA) in Pediatric Patients: An Underrecognized Diagnosis
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
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 Central centrifugal cicatricial alopecia
CCCA is a common, progressive hair loss condition that may not always be linked to hair care practices and requires a biopsy for diagnosis.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Acrodermatitis enteropathica: Case report analyses of zinc metabolism electron microscopic examination and immune function
Zinc supplements effectively treat acrodermatitis enteropathica.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
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 Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
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.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research An ophthalmological and electroretinographic study of patients taking canthaxanthin and beta-carotene
Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.