==== Front Ann Saudi MedAnn Saudi MedAnnals of Saudi Medicine0256-49470975-4466King Faisal Specialist Hospital and Research Centre 10.5144/0256-4947.2012.547asm-5-547LettersA syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters Karaca Burcu Biga Devlet Hastanesi FTR, Poliklinik, Canakkale, Kibris Sehitleri Caddesi Sirintepe, Mevkii, Biga Canakkale 17200, Turkey, drburcub@yahoo.comSep-Oct 2012 32 5 547 548 Copyright © 2012, Annals of Saudi Medicine2012This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. ==== Body To the Editor: In 1927, Rud1 described a patient with congenital ichthyosis, hypogonadism, short stature, epilepsy, polyneuritis, and hyperchromic macrocytic anemia. In the following years, 54 patients in 36 published reports were reported as having Rud syndrome.2–5 Recently it has been argued that the various case reports on Rud syndrome were so genetically heterogeneous and differed greatly from the original case reports of Rud.6 We present a report on dizygotic twin sisters with congenital ichtyosis, mental retardation, myopathy and hyperchromic macrocytic anemia. The patients were 21-year-old female and dizygotic twins. Their parents are relatives of the first degree. The mother had three pregnancies. The first one ended with abortus and the second one with a healthy birth. The births were term after an uneventful pregnancy and normal delivery with birth weights of 3300 g and 3200 g. They were affected with ichtyosis from birth. The twins’ psychomotor development was delayed. They managed to walk at the age of 4 with persisting difficulty in running and climbing stairs. They graduated from a high school for the mentally handicapped and had mild psychomotor retardation (IQ=69). The family history includes an aunt with progressive myopathy and mental retardation who had died at the age of 38 years. The examination of the skin showed signs of generalized moderate erythema and fine scaling, involving the scalp, face, trunk and extremities (Figure 1). Our cases had thickened and hyperkeratotic palms and soles and mild alopecia over the scalp. Even though they had dry eyes, the other ophthalmic and odyometric examinations showed no abnormal findings. The twins had mild hyperchromic macrocytic anemia despite vitamin B12 injection therapy from the age of 11 years. Other laboratory findings including serum phytanic acid levels were normal. Electocardiogram and electroencephalogram results were normal and myopathy was diagnosed by electromyography. In the cranial MRI, cerebellar vermian folias were minimally dilated and deep. The fourth ventricle was in the midline, and lateral ventricles were asymmetric. Both of the structures were dilated (Figure 2). Our cases had congenital ichtyosis, alopecia, mental retardation, anemia and myopathy. They would have been classified as Rud syndrome earlier, but recently the Rud syndrome diagnosis has been eliminated because of the heterogeneity of the new cases and differences from Rud’s original description of the syndrome. The cases differ from Refsum disease by having normal levels of phytanic acid, mental retardation, and myopathy that are not the characteristics of Refsum disease. 7 Sjögren-Larsson syndrome was ruled out since they showed no sign of spastic quadriplegia, retinal distrophy, phenotypically and electrophysiologically findings that are identical for this syndrome.8 Our cases also had little similarity to any of the other ichtyosis syndromes like Tay syndrome,9 Netherton syndrome, 10 multiple sulfatase deficiency, 11 neutral lipid storage disease,12 hereditary sensory neuropathy,13 Brocq syndrome,14 Zunich neuroectodermal syndrome,15 ichtyosismental retardation-dwarfism and renal impairment,16 or cardiofaciocutaneous syndrome.17 In conclusion, the two cases seem to be different from any previously recognized and currently known syndromes of dyzgotic twin sisters. Figure 1 Ichtyosis of the belly skin. Figure 2 Cranial MRI of one of the twin sisters. ==== Refs REFERENCES 1 Rud E Et Tilfaelde af Infantilisme med Tetani, Epilepsi, Polyneuritis, Ichthyosis og Anaemi of pernicios type Hospitalstidende 1927 70 525 538 2 Larbrisseau A Carpenter ST Rud Syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy Hyppokrates Verlag 1982 13 95 98 3 Mac Gilliwray RC The syndrome of Rud Am J Ment Defic 1954 59 67 72 PubMed 13158391 4 Rud E Et Tilfaelde af Hypogenitalisme (Eunuchoidismus feminus) med partiel Gigantisme og Ichthyosis Hospitalstidende 1929 72 426 433 PubMed 5 Shutov AA Chudinov AA Perminova MP A case of Rud’s syndrome Zh Nevropatol Psichiatr. Imeni S.S Korsokova 1993 93 104 106 PubMed 6 Stoll C Eyer D A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy Ann Genet 1999 42 1 45 50 10214507 7 Refsum S Heredopathia atactica polyneuritiformis phytanic acid storage disease (refsum’s Disease) with particular reference to ophtalmological distubances Metab Ophtalmol 1977 1 73 79 8 Sjögren T Larsson T Oligophrenia in combination withcongenital ichthyosis and spastic disorders Acta Psychiatr Scand 1957 32 suppl 113 1 9 Tay CH Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation: a new recessive disorder Arch Dermatol 1971 104 4 13 5120162 10 Wilkinson RD Curtis GH Hawk WA Netherton’s disease: trichorrhexis invaginata (bamboo hair) congenital ichthyosiform erythrodermaand the atopic diathesis: a histopathologic study Arch Dermatol 1964 89 46 54 14070837 11 Soong AL Multiple sulphatase deficiency Neurology 1988 38 1273 1274 PubMed 2899861 12 Williams ML Koch TK O’Donnell JJ Frost PH Epstein LB Grizzard WS Epstein CJ Ichthyosis and neutral lipid storage deisease Am J Med Genet 1985 20 711 726 3993689 13 Saito T Kowa H Torii J Yokoi F Tazaki Y A sporodic case of herditary sensory neuropathy with tonic pupil, ichthyosis vulgaris, deafness and atypical retinitis pigmentosa Clin Neurol 1980 20 201 208 14 Arce B Berchmans M An ichthyosiform dermatosis with clinical forms of congenital ichthyosiform erythroderma and ichthyosis vulgaris Hum Hered 1969 19 121 125 PubMed 5808058 15 Zunich J Esterly NB Holbrook KA Kaye CI Congenital migratory ichthyosiform dermatosis with neurologic and ophtalmologic abnormalities Arch Dermatol 1985 121 1149 1156 PubMed 4037840 16 Passwell JH Goodman RM Ziprkowski M Cohen BE Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome Clin Genet 1975 8 59 65 PubMed 1149323 17 Bottani A Hammerer I Schinzel A The cardio-facio-cutaneous syndrome: report of a patient and review of the literature Eur J Pediatr 1991 150 486 488 PubMed 1915501