research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
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research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
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 Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Graham‐Little‐Piccardi‐Lassueur Syndrome Mimicking Male Pattern Androgenetic Alopecia
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Linear Cutaneous Lupus Erythematosus Following Blaschko’s Lines on the Scalp: Additional Cases and Review of the Literature
Linear cutaneous lupus erythematosus on the scalp is rare, often affects young Asians, and can be treated with specific medications.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child
Stress may cause sudden hair whitening in children.
research A Case of Rhupus with Rowell Syndrome
A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.