research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
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research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
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 Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research 176 The Prospective Cutaneous Lymphoma International Prognostic Index (PROCLIPI) Study identifies clinical prognostic markers and establishes the foundation for large-scale translational research in cutaneous lymphoma
The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Sertoliform endometrioid carcinoma of the right ovary
Sertoliform endometrioid carcinoma of the ovary, though rare, has a good prognosis when treated early.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research AM UNUSUAL PRESENTATION OF PILOMATRIXOMA
A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome
Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Ovarian steroid cell tumor in a teenager masquerading as polycystic ovary syndrome: a case report and literature review
Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research 心音図の読み方の基礎 (心電図・心音図の価値と限界(特集))
Lichen spinulosus, usually seen in young people, can rarely occur in adults, as shown by a 52-year-old woman with a rough, bumpy rash.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research Familial Sexual Precocity
Familial sexual precocity in girls may be more common than previously thought.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.