research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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research A Case of Rhupus with Rowell Syndrome
A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
research P422 : Eruptive syringoma: an unusual presentation with androgenetic alopecia
A 25-year-old man had an unusual case of benign skin tumors and hair loss.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Nonalimental Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research An unusual presentation of pilomatrixoma
A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research CANITIES AND ALOPECIA IN CHILDREN ASSOCIATED WITH AVITAMINOSIS
Severe vitamin deficiencies in children can cause significant hair problems.
research The HAIR-AN syndrome : a case report
Treatment improved symptoms in a woman with HAIR-AN syndrome.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
research Nevus lipomatosus cutaneous superficialis with folliculosebaceous cystic hamartoma
A rare skin growth was successfully removed without recurrence after one year.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Rapunzel Syndrome in a Pediatric Female Patient: A Case Report of Trichobezoar Causing Intestinal Obstruction
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research Ovarian steroid cell tumor in a teenager masquerading as polycystic ovary syndrome: a case report and literature review
Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
research Kerion Celsi in infants and children—A narrative review 2010–2023
Kerion Celsi in children is treated with antifungals, not surgery, to prevent scarring.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.