research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
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research Cutaneous Lupus Erythematosus
The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
research MON-323 Metastatic Adrenocortical Carcinoma Presenting with Mixed Cushing's and Virilization Syndrome along with Bilateral Pulmonary Emboli
Rapid virilization should be checked for possible ovarian or adrenal cancer.
research Harlequin Ichthyosis
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Isotretinoin-induced hair growth in a case of hereditary hypotrichosis simplex of the scalp: A promising therapeutic approach
Isotretinoin may effectively treat hereditary hypotrichosis simplex, a rare hair loss condition.
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 Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Trichostasis Spinulosa: A Clinical Simulant of Acne Open Comedones
Trichostasis spinulosa can look like acne but usually affects adults, not children.
research Chronic Lupus Erythematosus and Systemic Scleroderma Coexistent at the Same Patient
A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
research A Virilizing Malignant Steroid Cell Tumor-Leydig Cell Subtype in a 24-Year-Old Palestinian Female with Challenging Histopathological and Biochemical Features: A Case Report
A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
research Autoamputation in a 45-Year-Old Female with Systemic Lupus Erythematosus Overlap with Systemic Sclerosis: A Case Report
Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Short Anagen Syndrome in an Indian Woman with its Impact on Quality-of-Life
An Indian woman with Short Anagen Syndrome had very short hair and a lower quality of life.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Thymic Stromal Lymphopoietin in Cutaneous Immune-Mediated Diseases
A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Post-finasteride syndrome: newly recognised condition
Post-finasteride syndrome causes various symptoms in men using finasteride, with no known cure.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research THU0349 Early Symptoms of Systemic Lupus Erythematosus (SLE) Recalled by 337 SLE Patients: Table 1.
Early symptoms of SLE include fatigue, joint pain, and sensitivity to sunlight.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.