research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
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570-600 / 1000+ resultsresearch A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Searching for a Lead: Diagnosing a Rare Cause of Recurrent Intussusception
A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
research Acetyl-CoA synthesis in the skin is a key determinant of systemic lipid homeostasis
Skin acetyl-CoA synthesis is crucial for overall lipid balance.
research Eating disorders and the skin
Skin changes can help identify eating disorders early.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Presentation, diagnosis, and management options of lipedematous alopecia
Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Skin Manifestations Associated with Autoimmune Liver Diseases: a Systematic Review
Autoimmune liver diseases are likely linked to certain skin conditions like vitiligo and psoriasis.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Overlooked non-motor symptoms in myasthenia gravis
Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
research Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
research Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa
Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Interações entre malassezia restricta e o micobioma humano: uma perspectiva abrangente
Malassezia restricta may be linked to intestinal diseases like Crohn's and ulcerative colitis.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
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 When the skin meets the bowel: About a case
Ulcerative colitis can cause skin issues due to immune system problems.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Hair Loss and 5-Aminosalicylic Acid Enemas
5-aminosalicylic acid enemas may cause hair loss.
research Medical complications of anorexia nervosa and bulimia nervosa
Anorexia and bulimia lead to serious health problems and increased risk of death, requiring aggressive treatment.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.