research Polycystic Ovary Syndrome: Special Diagnostic and Therapeutic Considerations for Children
Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
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900-930 / 1000+ results research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research Primary thyroid tuberculosis: a rare hypothyroidism etiology
Thyroid tuberculosis can cause hypothyroidism and should be considered when diagnosing cervical masses.
research Viremia and viruria of trichodysplasia spinulosa‐associated polyomavirus before the development of clinical disease in a kidney transplant recipient
The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
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 Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Temporal Triangular Alopecia: Report of Five Cases in Asian Children
Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research A Case Report of Thrombotic Thrombocytopenic Purpura Associated with Systemic Lupus Erythematosus: Overlapping Features
Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.
research Lupus erythematosus tumidus (LET) with autoimmune thyroid dysfunction (AITD) as the first presentation of systemic lupus erythematosus: A case report and review of the literature
Recognizing LET and AITD can help diagnose SLE early for better treatment.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Brandt Syndrome
Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Down Syndrome and Autoimmune Disease
People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research P62 Drug induced hypothyroidism in patients receiving treatment for multi-drug resistant tuberculosis
People from iodine-deficient areas are more likely to develop hypothyroidism when treated for multi-drug resistant tuberculosis.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.