research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
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570-600 / 1000+ resultsresearch Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Fluoroscopy-induced morphea
A man developed a painful skin condition after multiple heart procedures involving radiation.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research A pilot study for triple combination therapy with a low-fluence 1064 nm Q-switched Nd:YAG laser, hydroquinone cream and oral tranexamic acid for recalcitrant Riehl’s Melanosis
The combination therapy significantly improved Riehl’s melanosis in patients without serious side effects.
research Reversible cutaneous hyperpigmentation and nails with white hair due to vitamin B12 deficiency.
Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
research Acne - a potential skin marker of internal disease
Acne and other skin conditions can indicate internal diseases like Polycystic Ovary Syndrome (PCOS), and early treatment can prevent long-term issues.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Acute generalized exanthematous pustulosis induced by hydroxychloroquine prescribed for COVID-19
A patient developed a severe skin reaction and died after taking hydroxychloroquine for COVID-19.
research Hair tourniquet syndrome
Hair tourniquet syndrome is a rare condition where hair wraps around an infant's body part, needing quick removal to prevent damage.
research Study of Cutaneous Manifestations in End Stage Kidney Disease Undergoing Hemodialysis
Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Acne Necrotica in Its Entirety: When It Starts, and After It Evolves
Acne necrotica can be effectively treated with topical cream and antibiotics.
research 520 The protective effects of Apocynin against ultraviolet B-induced cellular senescence in human keratinocytes
Apocynin may protect skin cells from aging and damage caused by UVB light.
research Purpura Associated with Lithium Intoxication
Lithium can cause skin discoloration even at normal levels, so monitor for signs of intoxication.
research Dermatologic Manifestations In Chronic Kidney Disease Patients On Hemodialysis
Patients with chronic kidney disease on hemodialysis often have skin problems.
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research Piggyback‐Acquired Hypertrichosis
A baby girl grew extra hair from contact with her grandfather's hair medicine, but it went away after stopping exposure.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Hypertrichosis and Increased Pigmentation of Eyelashes and Adjacent Hair in the Region of the Ipsilateral Eyelids of Patients Treated with Unilateral Topical Latanoprost
Using the eye pressure medication latanoprost can cause excessive hair growth and darker eyelashes on the treated eye.
research Skin, a mirror reflecting diabetes mellitus: A longitudinal study in a tertiary care hospital in Gujarat
Skin problems are common in people with diabetes and controlling blood sugar can reduce these issues.