research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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420-450 / 1000+ results research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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 Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Approach to Nail Pitting in Pediatric and Adolescent Patients: A Dermatology Perspective
Nail pitting in kids can be harmless or indicate other health issues, so thorough evaluation is crucial.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
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 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 Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Hypertrichosis Cubiti Presenting in a Female Child: A Case Report
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.
research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.