Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene.
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Codon, Nonsense↗
Biomedical subjects
C Has
Publications and source records attributed to C Has.
[Hereditary photodermatoses].
Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect. With few exceptions, they manifest in early childhood, reveal heterogeneous clinical symptoms, and are difficult to treat. Although these diseases are rare, it is very important to make an accurate diagnosis on the basis of clinical symptoms, specific diagnostic tests, and direct DNA analysis. We review the spectrum of inherited photodermatoses, including porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and disorders associated with a defect in DNA repair, including xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, and Bloom syndrome. Early diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and makes it possible to offer genetic counseling and, when indicated, prenatal diagnosis to families at risk for these rare heritable disorders.
Diagnosis, Differential↗
[Hereditary blistering disorders].
Epidermolysis bullosa (EB) is a group of genetic skin disorders whose common feature is the formation of blisters following minor trauma. They present with a wide clinical spectrum of manifestations because of a variety of molecular defects. In patients with mild phenotypes, only skin is affected. The most severe EB forms are multiorgan disorders with a poor prognosis. EB arises from abnormalities in proteins of the dermal-epidermal junction. These specialized protein components aggregate to form anchoring complexes, which attach the epidermis to the dermis. Three major EB-forms can be distinguished on the basis of ultrastructural blistering level: EB simplex--epidermolytic, junctional EB--in the lamina lucida and dystrophic EB--dermolytic. To establish a provisional diagnosis for an EB patient, clinical data, family history and morphologic examination of the skin, e.g. by antigen-mapping, are needed. Complete knowledge of the genetic defect provides the basis to a rational genetic counseling and prenatal testing. Treatment of EB is based on wound care; multidisciplinary management of cases with severe course is required.
Epidermolysis Bullosa↗
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.
The Conradi-Hünermann-Happle (CHH) syndrome (X-chromosomal dominant chondrodysplasia punctata type II; MIM 302960) is an X-linked dominant disorder that is characterized by ichthyosis, chondrodysplasia punctata, cataracts and short stature. The disease occurs almost exclusively in females and shows increased disease expression in successive generations (anticipation). Recently, causative mutations in the emopamil binding protein (EBP) have been identified. To better appreciate the genetics of this syndrome we analyzed the EBP gene in seven independent families using PCR, conformation-sensitive gel electrophoresis, direct sequencing and restriction enzyme analysis. We found five novel mutations: three nonsense mutations in exon 2 and exon 3 and two frameshift mutations, one deletion in exon 4 and an insertion in exon 5. In two families, known mutations affecting exon 2 were identified. Surprisingly, we failed to detect the mutation in a grandmother exhibiting minor disease symptoms such as sectorial cataract and attribute this to gonadal and somatic mosaicism. Gonadal mosaicism appeared also to be involved in the case of healthy parents having two affected girls, one of whom died due to the disease. We conclude that gonadal mosaicism has to be considered when dealing with seemingly sporadic cases.
Adolescent↗
The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome.
We here review the clinical and genetic features of the Conradi-Hünermann-Happle syndrome. The disease is characterized by chondrodysplasia punctata, linear ichthyosis, cataract, and short stature. The X-linked dominant mode of inheritance was first recognized by Rudolf Happle in the years 1977 to 1981, who also fully delineated the clinical spectrum of this clinico-genetic entity. In the past, linkage studies had firmly excluded the gene for this syndrome from the Xq28 region, but unfortunately had also failed to clearly map the gene elsewhere on the X-chromosome. Very recently, causative mutations were identified in a large number of patients in the gene for emopamil binding protein. This gene is located on the short arm of Xp11.22-23 and also acts as a D8-D7 sterol isomerase. This enzymatic function plays a crucial role in cholesterol biosynthesis. It is of note that very recent investigations by the Marburg group have disclosed that the CHILD syndrome is likewise caused by a similar metabolic defect, namely a deficiency of a 3b-hydroxysteroid dehydrogenase (NSDHL). In the pathway of cholesterol biosynthesis this enzyme functions "upstream" of D8-D7 sterol isomerase and was shown to underlie the mouse mutant bare patches. Molecular studies in these syndromes now allow us to determine which family members carry the mutation and have already provided evidence in the Conradi-Hünermann-Happle syndrome for both gonadal and somatic mosaicism. As gonadal mosaicism seems to be frequent in this disease, a recurrence risk for further pregnancies has to be considered when dealing with a seemingly sporadic case.
3-Hydroxysteroid Dehydrogenases↗
[Multiple cutaneous cylindromas associated with parotid and submandibular gland cylindromas].
BACKGROUND: Multiple cutaneous cylindromas are uncommonly associated with extracutaneous cylindromas. An association between cutaneous cylindromas and salivary gland cylindromas would probably not be fortuitous. CASE REPORT: A 66-year-old man developed multiple cutaneous cylindromas and cylindromas situated in the parotid and submaxillary gland. Histology was similar for both localizations. DISCUSSION: This association was probably not fortuitous as the histology was similar, other cases have been reported in the literature, and recent complaint concerned the development of multiple cutaneous cylindromas and salivary gland cylindromas. Salivary gland cylindromas should be searched for in patients who develop cutaneous cylindromas as they are more aggressive in nature.
Aged↗
Resurfacing CO2 laser treatment of linear verrucous epidermal nevus.
The term linear epidermal nevus (LVEN) refers to benign hyperplasia of the epidermis. Three types of LVEN can be distinguished: localized, systemic and inflammatory form. All have in common resistance to treatment and risk of recurrence. We report the observations of 5 patients with inflammatory linear verrucous epidermal nevus and 5 patients with linear verrucous epidermal nevus. Management by superpulsed CO2 laser was performed as follows: test treatment, completed by removal of the lesion in one or more sessions. Treatment was effective in all cases but 2. Satisfactory cosmetic results were obtained; slight hyperpigmentation, transitory desquamation and erythematous papules were observed. There was no recurrence in two years follow-up. We suppose that for the two patients with recurrence, our treatment failure is due to the lower laser parameters used in these patients compared to the others, because of their younger age.
Adolescent↗