research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
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330-360 / 1000+ results research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Aceclofenac-induced erythema annulare centrifugum
A woman got a skin rash from taking aceclofenac, which went away after she stopped the drug.
research Functional Ingredient Mapping in PCOS Formulations: Hormonal Excess
research Aggressive squamous cell carcinoma developing in a giant epidermal cyst of the abdomen
A woman died from cancer that spread from a long-standing cyst on her abdomen.
research 392 Hair loss after drug reaction with eosinophilia and systemic symptoms: A multicentric retrospective study
Some patients who had a severe drug reaction developed long-term hair loss.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research 599 PPARg signaling modulation protects from hair follicle bulge stem cell damage and cyclophosphamide-induced hair follicle cytotoxicity
PPARγ signaling modulation can protect hair follicle stem cells from chemotherapy-induced damage.
research Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases
Abnormal ECM and immune cell interactions can cause skin diseases.
research Reflecting on the intersectionality of lived experiences of dermatological diseases and the WHO Framework for meaningful engagement of people living with noncommunicable diseases, and mental health and neurological conditions
Integrating lived experiences into health frameworks is crucial for addressing skin diseases and mental health effectively.
research Stability Studies on L-Ascorbic Acid dl-α-Tocopherol Phosphoric Acid Diester Potassium Salt (EPC-K)
EPC-K is stable except at very acidic pH or when exposed to sunlight, and it can decompose in low ethanol concentrations.
research Molluscum Contagiosum in an Epidermoid Cyst
Molluscum contagiosum can occur in epidermoid cysts, especially with prolonged steroid use.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Analysis of the quality, accuracy, and readability of patient information on polycystic ovarian syndrome (PCOS) on the internet available in English: a cross-sectional study
The internet has accurate information on Polycystic Ovarian Syndrome, but it's not high quality or easy to read, so we need better, user-friendly resources.
research Topoisomerase‐Interacting Agents
Topoisomerase inhibitors can cause hair loss, skin rash, hand-foot syndrome, and nail changes.
research Celiac Disease: Beyond Diet and Food Awareness
Celiac disease requires more than just a gluten-free diet for effective management.
research Association between the serum estrone-to-estradiol ratio and parameters related to glucose metabolism and insulin resistance in women with polycystic ovary syndrome
Higher estrone-to-estradiol ratios are linked to worse glucose metabolism and insulin resistance in women with PCOS.
research The Polycystic Ovary Syndrome
The document concludes that Polycystic Ovary Syndrome is a commonly underdiagnosed hormonal disorder in women, diagnosed by specific criteria.
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 P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research A Male with an Erythema, Pustules, and Crusts on the Scalp
A rare scalp condition was successfully treated with specific medications after 9 months.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research The pressing need for standardization in epidemiologic studies of PCOS across the globe
The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.