research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
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research Demographic findings of patients diagnosed with pernio and comparison of their vitamin B12, folate and ferritin levels with a control group
Patients with pernio have lower vitamin B12 and ferritin levels than healthy people.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Dermal Perifollicular Mineralization of Toy Poodle Bitches
Toy poodles may develop harmless mineral deposits around hair follicles as they age.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
Vitamin B12 deficiency can cause darkening of all nails.
research Nodular-cystic eruption in course of sorafenib administration for hepatocarcinoma: An unconventional skin reaction requiring unconventional treatment
Photodynamic therapy improved skin issues from sorafenib when other treatments failed.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research Pemphigus Foliaceus in a 26-year-old Hackney Pony
The pony's skin condition improved significantly with prednisolone treatment.
research Dermal Mass Aspirate from a Persian Cat
The Persian cat has a skin infection caused by a fungus, treatable with antifungal medication.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Don't miss this blue toe: Hair tourniquet syndrome
Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.
research Allergic contact dermatitis from dyes in wigs following diphencyprone treatment
Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
research Rapid hair depigmentation in patient treated with pazopanib
Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
research P-Phenylenediamine-Induced Angioedema-like Facies: A Case Report and Review of Pathomechanisms
Hair dye ingredient PPD can cause severe allergic reactions, including facial swelling.
research Acute fish liver intoxication: report of three cases.
Eating grouper fish liver can cause vitamin A poisoning with severe symptoms.
research Formulation of chloroaluminum phthalocyanine incorporated into PS-b-PAA diblock copolymer nanomicelles
The PS-b-PAA copolymer nanomicelles are effective for delivering a cancer treatment drug in photodynamic therapy.
research Crystalluria with sulphadiazine
Sulphadiazine can cause crystals to form in urine.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Iron deficient toxic milk leads to the mask phenotype in hephaestin knockout mice (907.4)
Iron deficiency in mothers causes hair loss in their baby mice.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Spurious Tetracycline Fluorescence in Hair
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research Perifollicular Melanocyte Regeneration in Bullous Pemphigoid
Melanocytes can regenerate around hair follicles in bullous pemphigoid, especially in patients with darker skin.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.