research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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600-630 / 1000+ resultsresearch Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Erosive Lichen Sclerosus—A Clinicopathologic Subtype
Erosive lichen sclerosus is a distinct subtype with specific skin features, and treatment led to complete resolution in half of the cases.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia
Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
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 P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Searching for a Lead: Diagnosing a Rare Cause of Recurrent Intussusception
A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
research Autoantibodies in Pediatric Systemic Lupus Erythematosus: Cluster Analysis and its Clinical Implications in Indian Children
Testing for various autoantibodies in Indian children with lupus can help predict disease symptoms and risks.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Pediatric Discoid Lupus Erythematosus with Scalp-Exclusive Involvement: Trichoscopy and Response to Early Minipulse Corticosteroid Therapy
Early minipulse corticosteroid therapy can effectively treat scalp discoid lupus in children.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
Botanical extracts can help treat hair loss in people with certain genetic conditions.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Circumscribed Alopecia: An Unusual Manifestation of Pediculosis Capitis
Head lice can cause unusual patchy hair loss.
research Comedonic discoid lupus erythematous
Doctors should consider comedonic discoid lupus erythematosus to avoid misdiagnosis.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Isolated Nail Lichen Planus in an Indian Boy
Early diagnosis and treatment of nail lichen planus in children can prevent permanent nail damage.