Introduction OS characterized by symptoms of severe combined immunodeficiency (SCID), in association with the cardinal triad of hepatosplenomegaly, lymphadenopathy and erythroderma. Immunological defects are rarely present at birth and generally occur during the first months of life with hyperesinophilia, hypogammaglobulinemia, high IgE levels in spite of lacking circulating B cells. Different ...

References 1 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319–1321. 2 Akiyama M, Takizawa Y, Kokaji T, et al. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401–407. 3 Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of...

Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy sho...

Omenn Syndrome (OS) is a rare autosomal recessive form of severe combined immunodeficiency characterized by failure to thrive, erythroderma, persistent diarrhea, lymphadenopathy, hepatosplenomegaly; severe recurrent infections [1]. The syndrome may be accompanied by normal or elevated levels of IgE, lymphocytosis, eosinophilia and hypogammaglobinemia [1]. The syndrome, also known as familial re...

Mr J.J., a 32-year-old Iraqi presented for investigation of anhidrosis. In 1967 he first developed a pruritic erythroderma with exfoliation, alopecia, nail loss and mucosal ulceration. There was no history of drug ingestion. Recovery was gradual. Since 1968 the patient has been unable to sweat. As a result he is heat intolerant, with 10 min in a hot environment causing palpitation, headache and...

Netherton syndrome (NS) is a severe genetic skin disease in which absence of a key protease inhibitor causes congenital exfoliative erythroderma, eczematous-like lesions, and atopic manifestations. Several proteases are overactive in NS, including kallikrein-related peptidase (KLK) 5, KLK7, and elastase-2 (ELA2), which are suggested to be part of a proteolytic cascade initiated by KLK5. To addr...