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.
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research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Paroxysmal Nocturnal Hemoglobinuria in Systemic Lupus Erythematosus: A Rare Manifestation.
PNH can occur in patients with SLE, so doctors should be aware of this.
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.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research A retrospective study of thyroid hormone in Pediatrics: relationships with growth hormone correlation with effects of diabetes in Riyadh, Saudi Arabia
Thyroid hormone levels in children are linked to growth hormone and can be affected by diabetes in Riyadh, Saudi Arabia.
research Healthy individuals genetically at-risk for the development of Pemphigus vulgaris or Alopecia areata share disease-like cytokine dysregulation
Genetically at-risk healthy people show similar immune issues as those with Pemphigus vulgaris or Alopecia areata.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Serum Plasma Thiol Evaluation in Chronic Telogen Effluvium Patients
People with chronic hair shedding have lower antioxidant levels in their blood compared to healthy individuals.
research Hypothyroidism, eyelash loss
Eyelash loss can be a sign of thyroid problems.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research A Clinical Study of Premature Canities and Its Association with Hemoglobin, Ferritin and Calcium Levels
Low ferritin and high Anti TPO levels are linked to early hair greying.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Trichostasis Spinulosa Confirmed by Standard Skin Surface Biopsy
Trichostasis spinulosa can be diagnosed with a simple skin biopsy and treated with specific gels, but lesions may return after stopping treatment.
research Trichoblastic Carcinoma (“Malignant Trichoblastoma”) with Lymphatic and Hematogenous Metastases
Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
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 Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Essential Thrombocythemia: The Dermatologic Point of View
Recognizing and treating skin symptoms in essential thrombocythemia is crucial for patient quality of life.
research Nonsynchronized segmented heterochromia in black scalp hair
A 14-year-old girl's black hair showed unique color changes, suggesting early greying.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Left Testicular Hypoplasia and Right Cryptorchid Testes Seminoma in a German Shepherd Dog
Testicular abnormalities in dogs should be treated to prevent complications like seminoma.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.