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A review of the anaesthetic management of severe skin disease is presented. Erythroderma, urticaria pigmentosa, hereditary angioedema, epidermolysis bullosa, pemphigus, pemphigoid, the Stevens-Johnson syndrome, Behcet's syndrome, scleroderma, Ehlers-Danlos syndrome and congenital anhidrotic ectodermal defect are discussed.
We report familial acanthosis nigricans affecting a 35-year-old woman, her 7-year-old son and 5-year-old daughter. Absence of the eyebrows and eyelashes was noted in this family. The mother had no axillary hair and her pubic hair was sparse. The boy also suffered from congenital heart disease and a congenital cataract in the left eye. The combination of acanthosis nigricans and ectodermal defects in this family may represent a distinct nosological entity.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma and the variable presence of other features including skeletal and ocular abnormalities, ectodermal defects, and susceptibility to certain malignancies. We report a 40-year-old woman with known RTS who developed porokeratoses on her limbs in adulthood, an association that has not previously been reported. In addition, she had bilateral iris dysgenesis, which has only been described once before in RTS.
A sporadic case of cardio-facio-cutaneous syndrome occurring in an 18-year-old girl is reported, with a brief review of pertinent literature, for its rarity and clinical interest. She had a characteristic cranio-facial appearance, a wide range of ectodermal defects, dystrophic nails and teeth, palmo-plantar keratoderma, typical short, coarse, unruly hair, pulmonic stenosis and mild mental retardation. She had no history of consanguinity and genetic studies did not reveal any abnormality.
A complete neuro-ophthalmological examination was made of 80 children affected by infantile spasms. Ocular features were inconstant and aspecific in the idiopathic, perinatal and postnatal groups. However, infantile spasms in the prenatal symptomatic group frequently were associated with ocular findings related to an ectodermic defect, as well as with brain defects. It is suggested that ocular findings are helpful in the investigation of infantile spasms, both in detecting associated brain malformations, and as an indication of whether further examination by computerized tomography is necessary.
Mutations in the p63 gene have been identified in five human disorders characterized by varying degrees of limb anomalies, ectodermal dysplasia, and facial clefts. We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome. These three patients are the first to be reported with this particular mutation, which consists of a change from glycine to aspartic acid at position 506 on exon 14. The clinical spectrum observed in the three family members highlights the wide range of phenotypic variations that result from a single point mutation in the p63 gene. The mother lacks certain features classically associated with AEC, dermatitis of the scalp in particular. Severe erosive dermatitis of the scalp developed in both offspring, along with previously undescribed poikilodermatous skin changes and a deficiency of CD4 T lymphocytes. The new and varied phenotypic features noted in these patients emphasize the spectrum of disease caused by mutations in the p63 gene and raise the possibility of a role for it in maintaining immunocompetence.
Focal dermal hypoplasia (Goltz's syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented her is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.
The possibility of forecasting of atopic dermatitis (AD) course is limited. The aim of the study was to determine the prognostic usefulness of determination of total and specific IgE concentrations and the results of immediate skin tests in AD patients. The study included 480 adult patients with AD. Immediate skin tests with extracts of 18 aeroallergens and 10 food allergens were performed by PRICK method. Total IgE concentration and concentration of specific IgE (sIgE) against 13 aeroallergens and 12 food allergens were determined by the FAST method. For the assessment of the degree of pathologic process intensity the occurrence was determined of selected AD features according to Hanifin and Rajka exerting direct effect on the severity of the disease, urticaria, extensive cutaneous lesions and remission of the disease. The results were subjected to statistical analysis. In patients in whom total IgE concentration was significantly increased and/or hypersensitivity was found to aeroallergens, coexistence of atopic diseases of the airways, ectodermal defect, urticaria and extensive skin lesions was more frequently observed. Extensive skin lesions were also more frequent in patients with hypersensitivity to food allergens. The studies performed demonstrated that the diagnostic tests discussed are useful for prognostication of AD course. The presence of SIgE, positive results of immediate skin tests and high total IgE concentration prognosticate a more severe course of the disease.
We describe a Danish family of four generations suffering from hypotrichosis of the scalp. Age at onset was 6-17 years and almost total scalp alopecia was reached by the age of 14-21 years. No associated ectodermal defects were present. Nine of 22 persons covering four generations were affected. Growth of the scalp hair slowly decreased and was accompanied by a gradual, diffuse hair loss without regional variation. A scalp biopsy was performed, revealing a non-scarring alopecia with features of androgenetic alopecia. The pedigree was compatible with autosomal dominant inheritance.
A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage.
KID (keratitis, ichthyosis, deafness) syndrome is a congenital ectodermal defect of unknown etiology. Although achilles tendon retraction has been seen on several occasions, no other evidence of skeletal, articular or enthesopathic processes has been described. We report a patient with KID syndrome and acroosteolytic changes on radiographs, along with clinical and radiographic evidence of Jaccoud arthropathy.
Changes in the quality and quantity of hair occur in a large number of hereditary syndromes. Because of their rarity and our lack of knowledge about their pathophysiology, no entirely satisfactory classification of these hair disorders exists. This review arbitrarily groups the heritable disorders of the hair into five classes: primary hair shaft disorders, alopecia without associated defects, ectodermal dysplasias, changes in hair color, and ectopic hair.
A father and daughter had typical clinical features of the keratitis, ichthyosis, and deafness (KID) syndrome, as described by Skinner et al in 1981. To our knowledge, ours is the first observation of a vertical transmission of this syndrome. The mechanism of inheritance is uncertain. These two patients as well as the 26 previously described exhibited a typical hyperkeratotic eruption, which should not be confused with ichthyosis. The characteristic features are diffuse hyperkeratosis, keratotic plaques, reticulated hyperkeratosis on the face, peribuccal grooves, and heavy-grain leatherlike keratoderma. The occurrence of multiple squamous cell carcinomas underlines the seriousness of this congenital ectodermal defect. Etretinate can relieve the lesions without actually improving the chances of survival.
A Bichon Frise pup had congenital alopecia. Histologic evaluation revealed the absence of hair follicles, arector pili muscles, sebaceous glands, and sweat glands. Unlike previously described cases of congenital ectodermal defect, this alopecia was not associated with any color pattern; the pup was white until it was 4 months old, at which time normal black and brown pigmentation developed independently of the alopecic pattern.
A review of the literature on teeth with enlarged pulp chambers and apical displacement of the bifurcation or trifurcation of roots (taurodontism) and investigation of the association of this trait with X-chromosomal aneuploidy shows that: (1) Taurodontism is not a rare trait in modern man, as indicated by the majority of recent reports, but occurs in approximately 2.5% of adult Caucasians. (2) Taurodontism occurs in syndromes, particularly in those having an ectodermal defect. (3) Among 12 patients showing taurodontic teeth radiographically, all had normal karyotypes. (4) Among 12 patients showing various combinations of X-chromosomal aneuploidy, 11 had taurodontic molars. (5) Patients with a female habitus and X-chromosomal aneuploidy as well as patients with a male habitus and X-chromosomal states have taurodontic teeth. (6) There is no simple association of the degree of taurodontism and the number of X chromosomes, but, in general, patients with the more severe forms of the trait--meso- or hypertaurodontism--are more likely to have X-chromosomal aneuploidy. While taurodontism may be viewed as an extension of a continuous trait of pulp chamber size, the extreme shape may arise when conditions disturbing the epithelial-derived root sheath produce a generalized amplified instability of development, as has been suggested from tissue culture studies of X-chromosomal aneuploid cells.
Seven individual members with incontinentia pigmenti are described from a family spanning four generations. The natural history of the cutaneous, ocular, hair, and dental anomalies is described for each involved member. In addition, a previously undescribed ectodermal defect, woolly-hair nevus, appeared in several affected members of this family. Evidence is offered to support the theory that the pattern of inheritance of incontinentia pigmenti is by linkage of the gene on the X chromosome acting as a dominant gene in females and lethal in males.
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BACKGROUND: The canonical Wnt signaling pathway has a number of critical functions during embryonic development and, when activated aberrantly, in the genesis of cancer. Current evidence suggests that during eye development, regulation of Wnt signaling is critical for patterning the surface ectoderm that will contribute to multiple components of the eye. Wnt signaling loss-of-function experiments show that a region of periocular ectoderm will form ectopic lentoid bodies unless the Wnt pathway modifies its fate towards other structures. Consistent with this, Wnt signaling gain of function in the ocular region ectoderm results in a suppression of lens fate. RESULTS: Here we demonstrate that ectoderm-specific Wnt signaling gain-of-function embryos exhibit additional defects besides those noted in the lens. There are profound facial defects including a foreshortened snout, malformation of the nasal region, and clefting of the epidermis along the ocular-nasal axis. Furthermore, despite the restriction of Wnt pathway gain-of-function to the surface ectoderm, the optic cup is inappropriately patterned and ultimately forms a highly convoluted, disorganized array of epithelium with the characteristics of retina and retinal pigmented epithelium. CONCLUSION: We suggest that activation of the Wnt pathway in surface ectoderm may disrupt the normal exchange of signals between the presumptive lens and retina that coordinate development of a functional eye.