Diagnosis of Fucosidosis Through A Skin Rash

Abstract

Angiokeratoma corporis diffusum (AKCD) is a dermatological hallmark of several inherited lysosomal storage disorders, including Anderson-Fabry disease, -galactosidosis, fucosidosis, aspartylglucosaminuria, galactosialidosis, -mannosidosis, and Kanzaki disease (1-3).A 50-year-old Japanese woman, the product of a consanguineous marriage, was admitted to our hospital for repeated respiratory tract infections and chronic heart failure due to hypertrophic obstructive cardiomyopathy. She had short stature, gargoyle-like appearance, mental retardation, anhidrosis, and AKCD from the lower back to bilateral femora (Fig. 1). With regard to her family history, her younger sister died suddenly in her third decade and her 54-year-old elder sister, who is still alive, also shows the same physical appearance, mental impairment, and AKCD. Lysosomal glycoaminoacid storage disease with AKCD was then considered, and enzyme examination of their leukocytes revealed -L-fucosidase deficiency. Fucosidosis is a rare, autosomal recessive disorder that results from the deficient activity of -L-fucosidase and the accumulation of fucose-containing glycosphingolipids, glycoproteins, and oligosaccharides in the lysosomes of the liver, brain, and other organs (4). There is wide variability in the clinical phenotype, with the most severely affected patients showing rapid progressive neurological deterioration, leading to decerebration and death in childhood (type I) (5), severe spondylo-

Disorders of Glycoprotein Degradation

“…19 Recurrent respiratory infections may occur. Patients then develop hypertonia and, later in the course, spasticity, tremor, and mental deterioration, leading to loss of contact with their environment.…”

“…40 Peripheral neuropathy with thenar and hypothenar atrophy has been reported. Tsukadaira et al 19 reported that angiokeratoma corporis diffusum (AKCD) is a feature of a number of lysosomal disorders including Anderson-Fabry disease, β-galactosidosis, fucosidosis, aspartylglucosaminuria, galactosialidosis, β-mannosidosis, and Kanzaki disease, and included an excellent color photo of AKCD. Intrafamilial heterogeneity has been noted.…”

“…19 Inheritance is autosomal recessive. Progressive coarsening of facial features is noted, with depressed nasal bridge, anteverted nostrils, broad nose, broad face, and rosy cheeks.…”

Lysosomale Speichererkrankungen - Update und neue therapeutische Optionen

“…Eine erhöhte Oligosaccharid-Ausscheidung im Sammelurin eignet sich als Screeningtest. Die Diagnose wird durch eine erniedrigte oder fehlende Aktivität der alpha-Fukosidase gesichert [36,62]. Patienten mit Fukosidose können eine Tortuositas der konjunktivalen Bindehautgefäße mit Aussackungen aufweisen, eine entsprechende Schlängelung der Netzhautgefäße wie bei Morbus Fabry wurde bisher nicht beobachtet.…”

Transcriptomic analysis of FUCA1 knock‐down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions

“…Type 1 has been reported as having a severe infantile presentation (neurological functions being highly affected before 1 year of age) while type 2 has progressive features, increasing patient's life expectancy to 25‐35 years of age . Fucosidosis patients’ skin abnormalities include angiokeratoma corporis diffusum (which is also present in other metabolic diseases), widespread telangiectasia, skin thickness, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands . It has been described that >50% of fucosidosis patients have angiokeratoma which tends to spread over the body of older patients, such lesions, located in the papillary dermis, are characterised by proliferative ectatic blood vessels limited by a flattened endothelium containing erythrocytes .…”