research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
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research Acquired hypertrichosis lanuginosa: Case report and review of the literature
A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
research Hirsuties
Hirsutism in women is often due to hormone sensitivity and has significant psychological effects.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Hirsutism as the initial presentation of malignant ovarian Leydig cell tumor: A case report
A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
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 A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research When the algorithm fails and experience wins: An extraordinary trichoscopic case
Thorough hair examination is crucial for accurate diagnosis and treatment.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Hair shaft disorders
Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Hiperandrogenismo femenino
Female hyperandrogenism is a condition caused by too much male hormones, leading to skin issues and ovulation problems, often due to Polycystic Ovary Syndrome, and is treated based on individual symptoms.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research A study of clinical and investigational profile of hirsute women at a tertiary care center in Western India
Idiopathic hirsutism is the most common cause of hirsutism in women, followed by PCOS.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research [Hirsutism].
Hirsutism, excessive male-pattern hair in women, can be caused by high androgens or skin sensitivity, diagnosed by testosterone levels, and treated with hair removal and hormone therapy.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Localized acquired hypertrichosis on a miner’s shoulder: case report
A miner developed extra shoulder hair due to long-term work pressure and inflammation.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
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.