ABSTRACT
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.
Subject(s)
Cataract , Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Ichthyosis , Lipid Metabolism, Inborn Errors , Muscular Diseases , Male , Humans , Infant , Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis/diagnosis , Ichthyosis/genetics , Muscular Diseases/diagnosis , Muscular Diseases/genetics , Muscular Diseases/pathology , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/pathology , Cataract/diagnosis , 1-Acylglycerol-3-Phosphate O-Acyltransferase/geneticsABSTRACT
Grover disease (GD) is a benign eruption that causes a papulovesicular rash on the trunk and proximal extremities. It often resolves spontaneously but can follow a more chronic and fluctuating course that may last several years. Although the etiology remains unknown, several associated triggers have been identified including heat and sweating, cool and dry air, renal failure, malignancy, and the initiation of several drugs. Since the disease tends to resolve on its own, management is aimed at disease prevention and symptomatic relief. First-line therapy includes topical steroids and vitamin D analogues with adjuvant antihistamines. In more severe cases that are refractory to less aggressive therapy, systemic corticosteroids, retinoids, and phototherapy may lead to successful resolution. Novel therapies are few and have little evidence but involve innovative use of light therapy and immune modulators. Herein, we review the literature and new trends of GD with a focus on established and novel treatments.
Subject(s)
Acantholysis/classification , Acantholysis/drug therapy , Ichthyosis/classification , Ichthyosis/drug therapy , Acantholysis/diagnosis , Acantholysis/etiology , Administration, Cutaneous , Administration, Oral , Darier Disease/diagnosis , Dermoscopy , Diagnosis, Differential , Drug Therapy, Combination/methods , Emollients/administration & dosage , Glucocorticoids/administration & dosage , Histamine Antagonists/administration & dosage , Humans , Hyperpigmentation/diagnosis , Ichthyosis/diagnosis , Ichthyosis/etiology , Pemphigus/diagnosis , Pemphigus, Benign Familial/diagnosis , Photochemotherapy/methods , Retinoids/administration & dosage , Skin/diagnostic imaging , Skin/drug effects , Skin/pathology , Skin Diseases, Genetic/diagnosis , Skin Diseases, Papulosquamous/diagnosis , Vitamin D/administration & dosageABSTRACT
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.
Subject(s)
Hair Diseases/therapy , Hair/abnormalities , Ichthyosis/therapy , Photophobia/therapy , Rare Diseases/therapy , Consanguinity , Dermatologic Agents/therapeutic use , Exome/genetics , Genetic Testing/methods , Hair Diseases/diagnosis , Hair Diseases/etiology , Hair Diseases/mortality , High-Throughput Nucleotide Sequencing , Humans , Ichthyosis/diagnosis , Ichthyosis/etiology , Ichthyosis/mortality , Mutation , Phenotype , Photophobia/diagnosis , Photophobia/etiology , Photophobia/mortality , Phototherapy/methods , Rare Diseases/diagnosis , Rare Diseases/etiology , Rare Diseases/mortality , SyndromeABSTRACT
A trip to the beach left this patient with an unusual rash where his bathing suit had been.