research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
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510-540 / 1000+ resultsresearch Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Chronic nonhealing ulcer in a finger of a toddler – a rare presentation of the hair thread tourniquet syndrome
A toddler's chronic finger ulcer was successfully treated after removing a hair causing hair-thread tourniquet syndrome.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
BMP5 is essential for ear cartilage cell growth in rodents.
research The development of several organs and appendages is impaired in mice lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
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 Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Uncombable hair improved by biotin
Biotin supplements significantly improved a young girl's uncombable hair.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research A Unique Case of Pili Multigemini Complicated by Folliculitis: Unveiling the Intricacies of a Rare Hair-Follicle Disorder
A rare hair disorder with multiple hairs from one follicle was found on a patient's abdomen.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.