Abstract
Today, we can differentiate between more than 20 different types of ichthyosis discussed in detail in this book. Moreover, there are at least 20 reports dealing with isolated cases or with a single family suffering from ichthyosis different in some respects from the well-established ichthyosis types. Some of these reports, especially the earlier ones, do not meet the minimal criteria for delineating a new type of ichthyosis. Clinical details are often insufficient and adequate histologic examinations are lacking. I am aware that some of the cases reported in this chapter may not represent unique conditions, but rather “university hospital syndromes.” However, other case and family reports discussed below certainly concern true emerging syndromes. For detailed information the reader will have to consult the original reference.
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References
Bäfverstedt B (1941) Fall von genereller, naevusartiger Hyperkeratose, Imbecillität, Epilepsie. Acta Derm Venereol (Stockh) 22:207–212
Baraitser M, Bum J, Fixsen J (1983) A recessively inherited windmill-vane camptodactyly/ ichthyosis syndrome. J Med Genet 20:125–127
Braun-Falco O, Landthaler M (1978) Ichthyosis vulgaris, Taubheit, Pili torti und Zahnanomalien. Hautarzt 29:276–280
Dowd PM, Munro DD (1983) Ichthyosis and osteopetrosis. J R Soc Med 76:423–426
Dykes PJ, Marks R, Harper PS (1979) A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration. Br J Dermatol 100:585–590
Gebhart W, Mainitz M, Jurecka W, Niebauer G, Paschke E, Stöckler S, Sluga E (1988) Ichthyosiforme Schuppung bei a-1,4 Glukosidase-Mangel. Hautarzt 39:228–232
Goyer RA, Reynolds J Jr, Burke J, Burholder P (1968) Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis. Am J Med Sci 256:166–179
Hammerstein W, Meiers HG, Haensch R (1975) Die Homhautveränderungen bei Ichthyosen. Albrecht v. Graefes Arch Klin Exp Ophthal 195:161–173
Hazell M, Marks R (1984) Follicular ichthyosis. Br J Dermatol 111:101–109
Jagell SF, Holmgren G, Hofer PA (1987) Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation - a new genetic syndrome. Clin Genet 31:102–108
Koller ME, Maurseth K, Haneberg B, Aarskog D (1979) A famiHal syndrome of diaphyseal cortical thickening of the long bones, bowed legs, tendency to fracture and ichthyosis. Pe- diatr Radiol 8:179–182
Kopec AV, Levine N (1979) Generalized connective tissue nevi and ichthyosis in Down’s. syndrome. Arch Dermatol 115:623–624
Lahmar L, Frenk E, Gharbi R, Walzer C (1984) Ichthyose généralisée associée a un syndrome spastique des membres inférieurs, une variante de syndrome de Sjögren-Larsson? Etude en microscopie optique et électronique de Tichthyose et de son évolution sous traite- ment oral a Tétrétinate. Ann Dermatol Venereol 111:885–892
Marghescu S, Anton-Lamprecht I, Rudolph PO, Kaste R (1984) Kongenitale retikuläre ich- thyosiforme Erythrodermie. Hautarzt 35:522–529
Menni S, Piccinno R, Crosti C, Sala F (1985) Two cases of lamellar ichthyosis with unusual hair shaft abnormalities. Dermatologica 171:180–182
Passwell J, Zipperkowski L, Katznelson D, Szeinberg A, Crispin M, Pollak S, Goodman R, Bat-Miriam M, Cohen BE (1973) A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria. J Pediatr 82:466- 471
Passwell JH, Goodman RM, Ziprkowski M, Cohen BE (1975) Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome. Clin Genet 8:59–65
Pincus SH, Thomas IT, Clark RA, Ochs HD (1975) Defective neutrophil Chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections. J Pediatr 6:908- 911
Ruzicka T, Goerz G, Anton-Lamprecht I (1981) Syndrome of ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid. Dermatologica 162:124–136
Sidransky E, Feinstein A, Goodman RM (1987) Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder. Clin Genet 31:137–142
Stormorken H, Sjaastad O, Langslet A, Sulg I, Egge K, Diderichsen J (1985) A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet 28:367–374
Traupe H (1987) Letter. What is the ichtyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome? Clin Genet 32:418
Traupe H, Happle R (1980) Klinik und Genetik der Ichthyosis vulgaris-Gruppe. Fortschr Med 98:1809–1815
Traupe H, Müller-Migl CR, Kolde G, Happle R, Kövary PM, Hameister H, Ropers HH (1984) Ichthyosis vulgaris with hypogenitalism and hypogonadism. Evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. Clin Genet 25:42- 51
Yesudian P, Srinivas K (1977) Ichthyosis with unusual hair shaft abnormalities in siblings. Br J Dermatol 96:199–203
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Traupe, H. (1989). Ichthyoses of Uncertain Status. In: The Ichthyoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73650-6_26
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DOI: https://doi.org/10.1007/978-3-642-73650-6_26
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