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PubMed1988

Hyperkeratosis palmoplantaris (Papillon-Lefèvre syndrome). A case report.

A 16-year-old female presented with a severe chronic periodontitis and with associated hyperkeratotic lesions of her palms and soles. Investigations revealed it as a case of hyperkeratosis palmoplantaris (Papillon-Lefèvre syndrome), which is a rare form of an ectodermal dysplasia. Previously it was speculated that this disease entity is not all that uncommon in Nigeria especially amongst the rural population. However, recent investigations revealed that this is not correct.

Adolescent↗
PubMed1988

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

While performing a systematic search for chromosomal microdeletions in patients with clinically complex X-linked syndromes, we have observed that large male-viable deletions and duplications are clustered in heterochromatic regions of the X chromosome. Apart from the Xp21 band, where numerous deletions have been found that encompass the Duchenne muscular dystrophy gene, an increasing number of deletions and duplications have been observed that span (part of) the Xq21 segment. To refine the molecular and genetic map of this region, we have employed 52 cloned single-copy DNA sequences from the Xcen-q22 segment to characterize two partly overlapping tandem duplications and two interstitial deletions on the proximal long arm of the human X chromosome. Together with a panel of somatic cell hybrids that had been described earlier, these four rearrangements enabled us to order the 52 probes into nine different groups and to narrow the regional assignment of several genes, including those for tapetochoroidal dystrophy and anhidrotic ectodermal dysplasia.

Chromosome Banding↗
PubMed1988

A population study on the density of palmar sweat pores.

A study of density of sweat pores in 594 individuals indicated that the average number of pores per cm2 in the hypothenar area was 490.4 for white newborns, 513.6 for black newborns, 652.4 for white children, 629.2 for black children, 519.6 for white adult males, 533.6 for white adult females, 379.2 for black adult males, and 519.2 for black adult females. The present study failed to demonstrate that newborns have the greatest density of pores when compared with children and adults. However, it should be kept in mind that many of the palmar impressions were taken during the first or second day of life. Those impressions did not reproduce the sweat pores clearly. It appears from this study that an optimal time to take palmar impressions on newborns is after the sweat glands are mature and functioning. Figure 1 shows that this occurs 2 weeks after birth. No differences in the density of sweat pores was found between blacks and whites. No differences in the density of sweat pores between the sexes was found in any group except for adult blacks: males had fewer pores than females. A review of the density of sweat pores in subjects with hypohidrotic ectodermal dysplasia is also given.

Adult↗
PubMed1988

[Hypotrichosis and oligodontia, combined with an Xq-deletion, in a calf of the Swiss Holstein breed].

Hypotrichosis and oligodontia associated with a chromosomal anomaly (Xq-deletion) are described in a 11-month old cattle (Simmenthal/Red Holstein cross-breed). This chromosomal anomaly was accompanied with hairlessness and grievous teeth abnormalities. The animal had a very thin haircoat, had only one incisor and between one to three molars per mandible or maxilla. This resulted in reduced food intake, reduced rumination, and retarded growth. Post-mortem examination revealed lesions in the kidneys (bilateral chronic interstitial nephritis), adrenals (hyperplasia), pancreas (focal fibrosis) and abomasum (obstipation and multiple ulcers). Some of these abnormalities are comparable with the human "anhidrotic ectodermal dysplasia" (Christ-Siemens-Touraine syndrome) and supports the hypothesis that there are homologies in the X-chromosome of different mammals.

Abnormalities, Multiple↗
PubMed1987

[Incontinentia pigmenti as the leading symptom].

It is reported on four girls aged 8 to 20 with Incontinentia pigmenti (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, spasticity, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to cleidocranial dysostosis, dysraphia, Poland's, Greig's and Chotzen's syndrome were found. Ip means unfavourable prognosis and progression of neuropsychiatric disorders.

Abnormalities, Multiple↗
PubMed1986

Atrichia with papular lesions.

We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. There were identical findings in the patient's father. This rare variant of ectodermal dysplasia typically presents with shedding of normal fetal hair within the first three months. Eyelashes are typically spared. Numerous keratin-filled follicular cysts develop over extensive areas of the skin, usually between the age of 2 and 26 years. These lesions are most numerous on the face, neck, scalp, and extremities. Teeth and nails are entirely normal in these patients. The mode of inheritance of atrichia with papular lesions is uncertain. Our case suggests an autosomal-dominant inheritance pattern, while previous reports have shown autosomal recessive inheritance pattern.

Alopecia↗
PubMedDate not supplied

[Contact embryoscopy (author's transl)].

Prenatal diagnosis based on anatomic definition of the fetus in utero is an difficult task, in the first trimester of pregnancy. The authors have recently introduced a new method : contact embryoscopy which consist in applying the optic piece of a contact hysteroscope (diameter of six millemeters) to the intact and translucent ovular membranes by the cervix. They have performed fifty embryoscopy prior to termination of pregnancy at 8 to 12 weeks. In 41 cases, they have seen the hands of fetus with the fingers. If this technic fails, it is possible, later, to use Echography and fetoscopy. The side-effects are discussed. Contact embryoscopy would be particularly useful in the detection of malformations of the extremities, for instance : chondro-ectodermal dysplasia (Ellis Van Creveld Syndrome) or ectrodactily.

Female↗
PubMed1979

[Naevus spongiosus albus mucosae. Review and personal observations].

White sponge nevus of the mucosa is a rare, mostly verifiable hereditary ectodermal dysplasia of the mucous membranes. Because associated symptoms of the skin are missing, it is classified as a distinctive disease among the congenital leukokeratoses. In the most cases the symptomless mucosal lesions are detected by dentological examination though they are present at birth or appear in the first years of life. On the basis of three own observations clinical appearance, histopathology, electronmicroscopy and differential diagnosis are discussed.

Child↗
PubMed1982

[Atopy and associated diseases].

In this study of the literature, the authors review the possible association between atopy and other conditions. The mostly reported observations are related to atopic dermatitis, but there is also some real relationship with respiratory allergy: this is true for mucoviscidosis. Some association are significant and interesting from the pathogenetic point of view: they may be classified under three headings (digestive and renal diseases, immunologic disturbances). Therefore, this study refers to intestinal absorption disturbance, gluten sensitive enteropathy, dermatitis herpetiformis, colic diseases, and also to glomerulopathies, immediate and delayed hypersensitivity deficiency and polymorphonuclear functional deficiency. Other associations do exist, but the low number of cases and the absence of a common pathogenesis allow no conclusion to be drawn (ectodermal anidrotic ectodermal dysplasia, Dubowitz syndrome). Some of them are certainly only fortuitous: this should be more definitely established by later studies. Some diseases may be accompanied by an eczematiform dermatitis (phenylketonuria, anomalies of histidin metabolism). Frequency of associations with alopecia areata and dominant ichthyosis vulgaris is also discussed. This review gives the possibility of emphasizing the absence of statistically significant hematopathic evolution of atopic dermatitis and calls attention on the Wiskott-Aldrich-syndrome as a model for the studies on atopy.

Agammaglobulinemia↗
PubMed1981

The keratitis, ichthyosis, and deafness (KID) syndrome.

We describe here a patient with ichthyosis, keratitis, deafness, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary hypohidrotic ectodermal dysplasia. Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and soles; (2) a vascularizing keratitis that results in notable visual impairment; and (3) neurosensory deafness. One half of the affected patients also display frequent, severe cutaneous infections. We suggest that the name "the KID syndrome" to emphasize the characteristic features of the syndrome-keratitis, ichthyosis, and deafness.

Adult↗
PubMed1995

[Neurofibromatosis associated with multiple intracranial vascular lesions: stenosis of the internal carotid artery and peripheral aneurysm of the Heubner's artery; report of a case].

Neurofibromatosis (NF), or von Recklinghausen's disease, is an autosomal dominant disorder of both mesoderm and ectoderm dysplasia commonly characterized by numerous neurofibromas and cafe-au-lait spots. However, cerebrovascular diseases associated with NF are rare, and among them occlusive vascular lesions have already been reported in the literature. It is postulated that the pathogenesis of the associated vascular lesions may be attributable to the proliferation of Schwann cells and the subsequent degeneration in the vessel wall. We documented here an uncommon case of NF associated with massive intracerebral hemorrhage caused by an aneurysm at the distal portion of the dilated Heubner's artery. Intracranial hemorrhage in association with NF is reviewed in the literature, and the clinical profiles, type and origin of bleeding, and associated occlusive vascular lesions are discussed. A 55-year-old man was admitted to our hospital on January 12, 1994, after he had suddenly become comatose. The patient was known to be affected by NF from both the family and past histories. On admission, the patient demonstrated a decerebrate posture in response to painful stimuli, and was then graded as 200 according to the Japan Coma Scale (JCS). CT scan showed a significant amount of blood clots present at the base of the right frontal lobe and in the lateral and third ventricles. After bilateral ventriculostomies were carried out for continuous drainage of bloody cerebrospinal fluid, the patient continued to regain partial consciousness to the level of JCS grade 3 until the seventh day, when he again suddenly deteriorated and became comatose.(ABSTRACT TRUNCATED AT 250 WORDS)

Aneurysm, Ruptured↗
PubMed1994

[Congenital atrichia with cysts].

INTRODUCTION: Congenital atrichia with papular lesions is a rare congenital ectodermic dysplasia. CASE REPORT: A male child had atrichia of the scalp and eyebrows from birth. The atrichia was associated with epidermic cystic lesions of the scalp. Biopsy showed cystic piler follicles within the derma surrounded with an inflammatory infiltration of multinucleated giant cells. DISCUSSION: In most reported cases, scalp hair is present at birth and then falls within the first three months of life. Follicular cysts appear later. This syndrome generally occurs sporadically and the mode of inheritance is unknown.

Alopecia↗
PubMed1993

Incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report.

A syndrome--incontinentia pigmenti--of probable genetic etiology, is discussed and a new case report presented. The syndrome presents systemic and dental manifestations, which are separate although similar to those found in other disease entities, i.e., congenital syphilis, hereditary ectodermal dysplasia.

Child↗
PubMed1993

[Alopecia areata and diffuse hypotrichosis associated with Ullrich-Turner syndrome. Presentation of 4 patients].

Gonosomal aberrations such as Turner's syndrome are frequently associated with autoimmune diseases or with serological markers for autoimmune diseases. An autoimmune origin has been suggested for alopecia areata. The simultaneous occurrence of alopecia areata and Turner's syndrome has not formerly been reported. We present here four female patients with Turner's syndrome, who also developed typical alopecia areata. In three of these cases alopecia areata first appeared during adolescence, whilst the fourth patient showed an early manifestation at the age of 10. Two of the patients had alopecia areata of the ophiasis type, while the condition was localized in one and diffuse in the fourth. In addition, two of the patients had diffuse hypotrichosis of the scalp and reduced sweat gland activity, with no other signs of ectodermal dysplasia. The third patient had not develop body hair after her childhood, except for some sparse thin hair in the axilla and in the genital area. The coincidence of alopecia areata and Turner's syndrome may indicate some genetic relationship between the two entities.

Adult↗
PubMed1993

Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples.

BACKGROUND: Understanding normal skin development and identifying markers of genetic skin disease expressed in postnatal skin have permitted the prenatal diagnosis of many severe genodermatoses: bullous diseases, keratinization diseases, pigment cell disorders, and disorders of the epidermal appendages (ectodermal dysplasias). Samples of 16 to 22 weeks' gestation fetal skin obtained by ultrasound-guided biopsy are evaluated using morphologic, immunohistochemical, and biochemical methods. OBSERVATIONS: The 12-year experience in evaluating samples from fetuses at risk of these disorders has allowed us to establish conditions that must be met before the samples are taken and the criteria for recognizing the disorder, to recommend the site(s) for sampling, and to be mindful of pitfalls that may be encountered in interpreting the tissue structure. CONCLUSIONS: Fetal skin biopsy is an important diagnostic tool that has permitted families in which members carry the abnormal gene for one of these severe skin diseases to undertake a pregnancy knowing that the condition of the fetus can be determined. Nonetheless, the ultimate goal is phase out this procedure when linkage of more of these disorders to specific genes is understood, specific mutations are characterized, and probes are available for molecular diagnoses using tissue obtained at earlier fetal ages. Until this is possible, fetal skin biopsy remains an important tool that can be used with reasonably high levels of safety and confidence.

Amniotic Fluid↗
PubMed1995

[X-linked genodermatoses].

Chromosome X is one of the best genetically defined. Many disease loci are assigned to this chromosome, due to the peculiar mode of inheritance of X-linked disorders. Chromosome X undergoes X-inactivation in females. Recombination with chromosome Y occurs at pseudoautosomal regions. Some features of X-linked genodermatoses are a consequence of these phenomenons: variable expression, topography following Blaschko's lines. This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. Deletions at the pseudoautosomal region may cause contiguous gene syndromes. Hence ichthyosis with steroid-sulfatase deficiency may occur in association with various disorders. Transmitting females should be recognized by clinical examination or molecular studies, as this represents the main point in genetic counselling.

Female↗