Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1

Congenital leukonychia totalis in two brothers.

Sir, was no known consanguinity in the reported family. For this Leukonychia, or white nails, is a common finding in nails of reason, the occurrence of white nails in the two brothers seems fingers or toes (1). It is a very heterogeneous condition, with to be an autosomal recessive segregation. There is only one many different causes. In a recent review, Grossmann & Scher case to our knowledge ...

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided pa...

erlin2 mutations in two iranian families with hereditary spastic paraplegia

spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

BACKGROUND The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscle diseases characterised by progressive proximal limb muscle weakness. Six different loci have been mapped and pathogenetic mutations in the genes encoding the sarcoglycan complex components (alpha-, beta-, gamma-, and delta-sarcoglycan) have been documented. LGMD patients a...

Mycotic Leukonychia in HIV Patients