research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
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120-150 / 1000+ results research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Hair, Wool, Quill, Nail, Claw, Hoof, and Horn
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research Anomalous Fluorescence of White Hair Compared to Other Unpigmented Keratin Fibres
White hair has weaker tryptophan fluorescence than other unpigmented fibers, possibly due to UV exposure or unknown substances.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series
EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Nutrition and Hair Anomalies
research Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.
Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Bubble hair and other acquired hair shaft anomalies due to hot ironing on wet hair
Using a hot iron on wet hair can cause dry, brittle hair with air bubbles inside.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research No Relationship Between Perceived Health Anomalies and Perceived Experimental Success in Retired Breeder Male Hartley Albino Guinea Pigs
Health issues in retired breeder guinea pigs don't affect experiment success.
research Guadalupe fur seal alopecia: a metabolic syndrome associated to climatic anomalies?
Climate-related nutritional stress may cause hair loss in juvenile male Guadalupe fur seals.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Familial Background in Aberrant Mammary Tissue Is a ‘Protective’ Factor against the Development of Nephrourinary Anomalies
research Avaliação de alterações estruturais envolvendo o surgimento de tecido adiposo em localizações anômalas e o deslocamento de glândulas crinas em três alopecias cicatriciais primárias linfocíticas
Adipose tissue and eccrine gland displacement are common in certain alopecias but don't help differentiate between them.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Hormonal Organization of Sex Differences in Play Fighting and Spatial Behavior
Gonadal hormones may influence sex differences in play fighting in animals, but their effect on human spatial behavior is unclear and needs more research.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Exposure to gamma-rays at the telogen phase of the hair cycle inhibits hair follicle regeneration at the anagen phase in mice
Gamma-rays exposure during the resting phase of hair growth can damage hair regeneration and color in mice.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.