netherton’s syndrome associated with progressive spastic paraplegia

nethertons syndrome consists of the combination of ichthyosis, eczema, and abnormal hair and presents within the first 10 days of life with erythroderma. other reported features are short stature, mental retardation, and seizures. allergy to nuts and fish is also common amongst patients. mutations in the spink5 gene on 5q are reported in patients with nethertons syndrome. to the best of our knowledge, there is no reported case of nethertons syndrome associated with progressive spastic paraplegia in the literature. we report five affected offsprings in two related families with findings of nethertons syndrome associated with progressive pure spastic paraplegia. regarding the lack of any previous history in the family and consanguinity of the parents in the families, an autosomal recessive mode of inheritance is suggested as seen in nethertons syndrome. the parents of four cases are first cousins, and the parents of one case are second cousins. patients in the two families are themselves first cousins once removed. all affected individuals presented with non-bullous congenital ichthyosiform erythroderma. besides ichthyosiform erythroderma and progressive spastic paraplegia, they had recurrent infections and various degrees of photophobia and heat intolerance. a most notable finding in the patients was a very severe reaction to fish odor such that fish odor causes severe vomiting. neurologic findings in the index case are bilateral lower extremity weakness, spasticity, extensor plantar response, and hyper-reflexia with normal sensation including vibratory sensation in the toes. he has a circumduction gait with apparently normal muscle bulk. to find whether there is the same molecular pathology as seen in nethertons syndrome, extracted dna from the index case was sent to be analyzed for possible mutations in the spink5 gene.