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research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily
Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
research Clinical manifestations of alopecia in autoimmune blistering diseases: A cross-sectional study
Most patients with autoimmune blistering diseases experienced some hair loss, which may be underreported and linked to disease severity.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Skin manifestations of endocrine diseases
Hormone imbalances from endocrine diseases can cause various skin conditions that help diagnose and treat these diseases early.
research Acne and Systemic Diseases
Acne is common and can be linked to various systemic health conditions and syndromes.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Melanosis Coli After Long-Term Ingestion of Cape Aloe
Long-term Cape Aloe use causes harmless colon pigmentation that can help detect polyps.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Trusting your gut: a hairy situation—gastric trichobezoar case report
Consider trichobezoars in young girls with vague symptoms for accurate diagnosis.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Cutaneous manifestations of obesity and themetabolic syndrome
Obesity is linked to various skin disorders, which can help with early diagnosis and prevention of long-term health issues.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research Pathophysiology and Nutritional Approaches in Polycystic Ovary Syndrome (PCOS): A Comprehensive Review
Eating a Mediterranean diet and taking certain supplements may improve symptoms of PCOS.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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 Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.