Ichthyosis, congenital

The two most severe types of ichthyosis, lamellar ichthyosis (LI) and epidermolytic hyperkeratosis (EHK), are distinct families of diseases with completely different etiologies (see Figure 8.1 and Table 8.3). Nevertheless, LI and EHK have several things in common they are rare, congenital diseases (prevalence <1/100,000) with more or less generalized hyperkeratosis and a defective skin barrier, and they usually demands vigorous therapy. 

Vahlquist, A., Ganemo, A., Pigg, M., Virtanen, M., and Westermark, P., The clinical spectrum of congenital ichthyosis in Sweden a review of 127 cases, Acta Derm. Venereol., Suppl. 213, 34-47, 2003. 

In four children, two of whom were being treated with 3% hexachlorophene baths for burns and two for severe congenital ichthyosis, the interval between exposure and symptoms ranged from 6 hours to 10 days (24). AH showed severe vacuolation of the white matter in different areas of the cerebrum and cerebellum. 

These findings imply that there must be another explanation for the parakeratosis found in psoriasis aside from the increased cell division, decreased transit time, and lack of time necessary for dissolution of the nucleus to take place. Comparable findings, i.e., increased cell proliferation without parakeratosis, have been reported by Frost et al. in congenital lamellar ichthyosis (F20) and by Kurban and Azar in familial continual skin peeling (K8). One explanation which has been advanced is that the DNA is chemically altered or more firmly bound to protein since, according to Jarrett and Spearman (J3) and Steigleder et al. (S21), it is not as easily digested by DNase as is normal DNA. 

Congenital hemidysplasia with ichthyosis and limb defects (CHILD syndrome) Sterol A8,A7-isomerase, sterol C-4 demethylase... 

Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutseh O, Harel A, Mashiaeh Y, Sarig O, Spreeher E (2013) Non-syndromie autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol 38 911-916... 

Rodriguez-Pazos L, Ginarte M, Vega A, Toribio J (2013) Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr 104 270-284... 

Intrinsic ultrastructural differences exist between the various types of inherited ichthyoses that may well be used as parameters for their classification. By electron microscopy a distinction is not only possible between representatives of the main clinical groups (ichthyosis vulgaris group, congenital ichthyoses, hystrix-like ichthyoses), but also between the different types within these groups. 

Hirone, T. (1969). Electron microscopic studies of ichthyosis and congenital ichthyosiform erythroderma. J. Electr. Microsc., 18,63... 

An unusual manifestation of lamellar ichthyosis is scarring alopecia which probably results from recurring infections of the scalp (Figure 13.6). Other cases have been described with both alopecia, congenital deafness and keratitis . The reported patients occurred sporadically with no family history of similar cases. 

CONGENITAL TRANSIENT SCALING DISORDERS Lamellar ichthyosis of the newborn... 

This disorder consists of oligophrenia, infantilism, congenital ichthyosis most like lamellar ichthyosis, and possible epilepsy. Patients with these defects who also have a variety of others, have also been described. 

The traditional, and still the fundamental method of approach to heterogeneity is to analyse the clinical features of the disorders in question in relation to the pattern of inheritance observed in families. This may produce obvious differences between forms which leave no doubt that they are clinically and genetically distinct. Thus congenital lamellar ichthyosis is clearly a different entity from ichthyosis vulgaris occurring in adult life, and the finding that in the former the inheritance is autosomal recessive, with multiple affected... 

Ichthyosis without syndromal association Congenital ichthyosis... 

Sjogren, T., and Larsson, T. (1957). Oligophrenia in combination with congenital ichthyosis and spastic disorders. A clinical and genetic study. Acta Psychiatr. Neurol Scand., 32 (Suppl. 113), 1... 

Rud s syndrome is a mild or severe, branny scaling congenital Ichthyosis, associated with oligophrenia, epilepsy and infantilism. 

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