research Central centrifugal cicatricial alopecia
CCCA is a scarring hair loss condition mainly in African descent women, possibly caused by genetics and hairstyling, treated with gentle hair care and medications.
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540-570 / 1000+ results research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research 6601 A Case of Recurrent Painless Thyroiditis and Discussion of Management
Managing recurrent painless thyroiditis is challenging and should be personalized based on episode frequency, severity, symptoms, and patient preferences.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Patchy presentation of central centrifugal cicatricial alopecia
CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Short- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study
Most children with MIS-C showed significant improvement by 6 months.
research Sa1389: LESSONS FROM HEPATITIS C TREATMENT DURING THE COVID-19 PANDEMIC: DECREASED RESOURCE UTILIZATION LEADS TO SIMILAR EFFICACY IN BRITISH COLUMBIA, CANADA
Supplemental testosterone may lower liver cancer risk in hepatitis C patients.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Neurological presentation of psittacosis during a small outbreak in Leicestershire.
A woman showed neurological symptoms from psittacosis linked to bird exposure, improving after antibiotic treatment.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
Hairy elbows may be linked to short stature, but the exact cause is unclear.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Rosella C
Rosella C. believes an earlier diagnosis of Cushing disease could have prevented severe symptoms.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.