research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
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870-900 / 1000+ results research Incidence of Congenital Goitre in Goats, in and Around Hyderabad, India
Congenital goitre in goats near Hyderabad is linked to iodine deficiency and can be treated effectively with medication.
research LGR5 is a Conserved Marker of Hair Follicle Stem Cells Across Species and is Present Early and Throughout Follicle Morphogenesis
LGR5 is a marker found in hair follicle stem cells in various species and is important for hair growth and skin repair.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Protein deficiency in a colony of western lowland gorillas (Gorilla g. gorilla)
Gorillas in Gabon improved after protein supplements were added to their diet.
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 Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
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 Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Social selection favours offspring prone to the development of androgenetic alopecia.
Society's pressure to have children later in life favors genes that increase the risk of early baldness in male offspring.
research A case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.