research Multicentric Reticulohistiocytosis Induced Alopecia: A Clinical Case Report
Alopecia can be caused by multicentric reticulohistiocytosis.
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360-390 / 1000+ resultsresearch 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Horn With Miliary Calcification in Squamous Cell Carcinoma
A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
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 A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Alopecia Universalis Occurring after Alemtuzumab Treatment for Multiple Sclerosis. A Two-Year Follow-Up of Two Patients
Two patients developed complete hair loss after Alemtuzumab treatment for MS, with no regrowth after two years.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics
Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Macular Alopecia: A Single‐Center Retrospective Cohort Study to Describe an Underrecognized Pattern of Alopecia
Macular alopecia is a distinct, non-scarring hair loss pattern that mostly affects young Hispanic/Latinx females and often resolves on its own.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Central Centrifugal Cicatricial Alopecia Presenting with Irregular Patchy Alopecia on the Lateral and Posterior Scalp
The report found a new type of hair loss in African-American women that affects more areas of the scalp than previously thought.
research A Case of Proliferating Trichilemmal Cyst with Trichoepitheliomatous Change
A young woman had a rare scalp tumor usually found in older women.
research Screening Guidelines for Thyroid Function in Children With Alopecia Areata
Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research ROS-Degradable Polythioketal Urethane Foam Dressings to Promote Porcine Skin Wound Repair
A special foam called EG7 PTK-UR helps heal skin wounds better than other similar materials, working as well as a top-rated product and better than a polyester foam.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Commentary on BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas
research Nonsynchronized segmented heterochromia in black scalp hair
A 14-year-old girl's black hair showed unique color changes, suggesting early greying.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.