research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
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research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Schmallenberg virus infection suspected in a calf born to an imported heifer
A calf in Scotland likely had Schmallenberg virus from its mother.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
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 Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Congenital Hypotrichosis in a White-Tailed Deer Fawn from
A white-tailed deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Congenital hypotrichosis in a French bulldog
A French bulldog had sparse hair due to a condition similar to that seen in Chinese crested dogs.
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 Trends in the presence or absence of transaminitis and/or leukopenia in pediatric patients treated with methotrexate for inflammatory skin disease
Most children with skin inflammation taking methotrexate had lab abnormalities, but liver issues often improved without changing the medication dose.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research The eye and the skin in endocrine metabolic diseases
Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Hair follicles and their role in skin health
Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita
Using tissue expanders for scalp reconstruction in patients with extensive Aplasia Cutis Congenita is effective and has minimal complications.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Line-Field Optical Coherence Tomography: Usefulness in the Non-Invasive Differential Diagnosis of Congenital Alopecia of Infancy
LC-OCT helps accurately diagnose different types of infant hair loss without invasive methods.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.