research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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390-420 / 1000+ results research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research 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 Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Trichodysplasia spinulosa: a polyomavirus infection specifically targeting follicular keratinocytes in immunocompromised patients
Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Primary hypothyroidism with exuberant dermatological manifestations
Thyroid disease can cause skin and hair changes, treatable with levothyroxine.
research 1323 Human dermal fibroblasts and mast cell populations are altered in hidradenitis suppurativa, with epithelial-mesenchymal-transition signals ameliorated by spleen tyrosine kinase antagonism.
Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
research Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Urticaria Neonatorum: Accumulation of tryptase‐expressing mast cells in the skin lesions of newborns with Erythema Toxicum
Newborns with the common rash Erythema Toxicum have many active mast cells in their skin, but these cells don't produce the LL-37 peptide.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research [Hypothyroid myopathy in a young adult].
Levothyroxine treatment fully cured the young man's hypothyroid symptoms.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research 1320 Orchestrated cytotoxic and skin migratory ability lacking self-tolerance: circulating γδT-cells may promote alopecia areata
The role of γδT-cells in causing alopecia areata remains unclear.
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 Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Clinical and dermatoscopic features of temporal triangular alopecia in infants
Temporal triangular alopecia in infants is mostly seen in males at birth, with unique features that help with diagnosis.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research ANALIZA CZĘSTOŚCI WYSTĘPOWANIA CHORÓB TARCZYCY WŚRÓD LOSOWEJ PRÓBY OSÓB NA PODSTAWIE BADAŃ ULTRASONOGRAFICZNYCH
Thyroid disorders, especially autoimmune ones, are very common in the studied group.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research Tertiary hypothyroidism in a dog
A dog with a pituitary tumor developed tertiary hypothyroidism, improved with treatment, but was later euthanized due to neurological issues.
research Management of neonates and children with male pseudohermaphroditism
Individuals with male pseudohermaphroditism often do better raised as females with early surgery.