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PubMed1999

Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2.

In this report we present the long-term follow-up findings in a young female born to consanguineous parents with the unique association of (1) a progeroid syndrome, (2) facial dysmorphism with relative microcephaly, triangular face, retrognathism and skin erythema, (3) bilateral posterior cataracts, (4) basal ganglia calcifications and (5) atrium septum defect type 2. Intelligence is borderline. Clinical evolution after normal puberty was positive with regression of the facial erythematous changes. Over the years differential diagnosis included progeria, hypohidrotic ectodermal dysplasia, Rothmund-Thompson syndrome, Cockayne syndrome, Bloom syndrome, but the clinical spectrum of abnormalities and the evolution with age were not compatible with one of these diagnoses. Parental consanguinity is in favour of autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1999

Incontinentia pigmenti: overcoming cosmetic challenges.

Incontinentia pigmenti is a rare syndrome of genetic origin that affects the melanin production of the melanocytes in the epidermis or superficial dermis. It is an X-linked dominate disease with lethality in males. The syndrome presents with skin and dental manifestations similar to ectodermal dysplasia and congenital syphilis. However, dental alternatives for achieving esthetic reconstruction differ. This article illustrates a case of cosmetic rehabilitation of an 18-year-old woman with incontinentia pigmenti.

Adolescent↗
PubMed2000

[Congenital absence of major salivary glands].

Congenital absence of major salivary glands is infrequent, with only a few cases in the world medical literature. We found 30 documented cases in a bibliographic search. We report a case of total agenesia of the parotid gland diagnosed in the course of a study motivated by symptoms of facial pain and the temporomandibular joint. Agenesia of a major salivary gland (specially the partial ones) usually develops with no manifestation that motivates the patient to seek treatment. Parotid aplasia can be an isolated finding or associated with the absence of other glands or with abnormalities such as aplasia of the lacrimal gland, mandibulofacial dysostosis, and ectodermic dysplasia.

Adult↗
PubMed2000

[Multiple eccrine hydrocystomas of the eyelids in the framework of Schöpf syndrome. A case report].

Schöpf-Schultz-Passarge syndrome is a rare ectodermal dysplasia described by Schöpf in 1971. The disease is characterized by hypodontia, hypotrichosis, palmoplantar keratoderma, hypoplastic nails and eyelid hydrocystomas. We report the case of a 71-year-old man, the first French description of this syndrome, who remarkably presented all the signs. The patient also had skin tumors, multiple eccrime hidrocystomas and aspectific macular degeneration. A review of the literature is discussed.

Aged↗
PubMed2001

Use of dental implants in children: a literature review.

The aim of this literature review is to discuss the use of dental implants in growing patients and the influence of maxillary and mandibular skeletal and dental growth on the stability of those implants. It is recommended to wait for the completion of dental and skeletal growth, except for severe cases of ectodermal dysplasia.

Child↗
PubMedDate not supplied

Two-year follow-up of a patient with oligodontia treated with implant- and tooth-supported fixed partial dentures: a case report.

Dental implants have become an accepted treatment modality for aging patients with either completely or partially edentulous arches. However, growing patients with congenitally missing primary and/or permanent teeth often need dental implant treatment, even before puberty, for optimum functional and/or psychosocial development. From a developmental perspective, dental implants cannot accompany the physiologic differentiation of the alveolar bone because of the difference in anchorage between an osseointegrated dental implant and a tooth in bone. Nevertheless, reports in the literature suggest that dental implants can be used successfully in partially and completely edentulous arches affected by congenital disorders such as ectodermal dysplasia. In this case report, a multidisciplinary team approach, which included an orthodontist, an oral surgeon, and prosthodontists, in the treatment of a patient with oligodontia is discussed. The orthodontic and prosthodontic treatment sequence, growth analysis from age 14 to 18 years, and successful therapy of an implant associated with late failure is presented.

Adolescent↗
PubMed2003

[KID syndrome: a cause of pachydermatoglyphia].

INTRODUCTION: The KID syndrome is a rare ectodermal dysplasia associating erythrokeratodermia, deafness and keratitis. Other disorders such as sensitivity to infections or hypohidrosis may be associated. Pachydermatoglyphia is characterized by diffuse hyperkeratosis in which the dermatoglyphe crests are accentuated in thickness and height. CASE REPORT: We report the case of a KID syndrome in a young girl, born of non-consanguine parents and without any familial context. The classical elements of this dysplasia were present: erythrokeratoderma with dryness and roughness of the whole tegument, plicatured pachydermia of the knees, facial erythema, grooves around the mouth, hypotrichosis of the lashes and eyebrows, deafness, and ophthalmologic involvement. Involvement of the palms was characterized by the pachydermatoglyphic aspect. DISCUSSION: In this case report, the palmar keratoderma corresponded to the original description of pachydermatoglyphia and we consider that the KID syndrome should be integrated as a possible etiology of pachydermatoglyphia.

Child↗
PubMed2004

Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome?

Two brothers with very similar phenotypes involving trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias are described. They have similar, distinctive facial features with deep-set eyes, a high nasal bridge and a short philtrum. Both brothers are carriers of a maternally inherited apparently balanced translocation of chromosomes 11 and 18: 46,XY, t(11;18)(p13;q21)mat. However, this is thought to be coincidental, since their younger brother also carries this translocation and is phenotypically normal. Although they have many features that are found in the ectodermal dysplasia syndromes, their combination of features is distinct and has to our knowledge not been previously reported.

Adolescent↗
PubMedDate not supplied

Implant-prosthodontic treatment for special care patients: a case series study.

PURPOSE: The aim of the study was to assess implant survival and complications with implants and prostheses in patients exhibiting a variety of systemic diseases and congenital defects. MATERIALS AND METHODS: Patients with specific medical conditions are regularly treated at the Department of Prosthodontics, University of Bern, Switzerland. All those who had received implant-prosthodontic treatment during the past 12 years were reexamined for this study. Among these patients the following diseases were observed: cleft lip/palate (n = 8), Down syndrome (n = 3), Sjogren syndrome and scleroderma (n = 2), ectodermal dysplasia (n = 4), developmental retardation (n = 2), chronic leukemia (n = 2), lichen planus (n = 1), cerebral palsy (n = 1), deaf-muteness (n = 1), amyotrophic lateral sclerosis (n = 1). At the time of the treatment the mean age was 55.6 years. ITI implants had been placed according to a standard protocol with local anesthesia, except for one patient in whom full anesthesia was used. One hundred three implants were loaded and supported a total of 34 fixed or removable prostheses. All patients were appointed to a regular maintenance care program. In the context of the present study, all but 1 patient were reexamined clinically. New radiographs were obtained, and the implants and prostheses assessed. Additional information was obtained from regular records in the patients' charts. RESULTS: Three implants were lost in the healing phase, and 1 implant was replaced. Only 1 patient with 4 implants was lost from the study (she had passed away). The survival rate of the loaded implants was 100%. In 1 patient, peri-implant bony defects were detected around all 3 intraforaminal implants. The prosthetic plan was maintained in all patients, and they continued to wear the originally planned type of prosthesis. Complications included insufficient hygiene, soft tissue hyperplasia, extraction of remaining teeth, and minor maintenance or repair of the prostheses. CONCLUSIONS: So far, the mostly unknown implications and possible risks for the process of osseointegration and long-term maintenance in patients with such rare diseases and defects has resulted in a rather restricted application of implants. However, from the present results, it appears that implants can successfully be placed and maintained. This is ascribed in part to a strict maintenance care program provided by the caregivers and to a high compliance of the patients who participated in this program to perform good oral hygiene.

Adult↗
PubMed1991

[Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?].

A 15-year-old boy had suffered burning of both palms and all fingers during his 2nd year of life. Epitheliazation of the lesions did not occur. In his 6th year, erythema, desquamation and erosion-like alterations appeared spontaneously on the soles of both feet and on the plantar sides of the toes. These alterations were similar to those on the hands. Histologically the lesion on the right sole was covered with a very thin horny layer and thin epidermis. The cells of the epidermis had clear cytoplasm and probably derived from the ductal epithelium of the sweat glands. Under the atrophic epidermis, granulation tissue consisting of lymphocytes, plasma cells, histiocytes, and a few polynuclear cells and eosinophils was seen. The following symptoms were still present in the boy: dys- and hypotrichosis, oligodontia, enamel and dentin hypoplasia, cleft palate and uvula, concomitants strabismus (left eye), and cryptorchidism. Transplantation of the patient's skin from the right thigh to the lesion on the right sole was tried. The authors postulate a previously unreported form of ecto-mesodermal dysplasia in this case.

Abnormalities, Multiple↗
PubMedDate not supplied

[Prenatal diagnosis in dermatology: contribution of the ultrastructural study].

Fetoscopy and fetal skin biopsy have together played an important role for antenatal diagnosis of various hereditary skin disorders (genodermatoses). The fetus and placenta can be visualized directly and skin biopsy samples can be obtained for light and electron microscopic studies, tissue culture and biochemical analysis. These techniques have been used successfully in the prenatal diagnosis or exclusion of some types of epidermolysis bullosa, ichthyosis, Chediak-Higashi syndrome, oculocutaneous albinism and anhydrotic ectodermal dysplasia in fetuses known to be at risk from these diseases. The purpose of this report is to describe the current methods of fetoscopy and fetal skin biopsy and to review their main dermatological indications. Complications associated with these procedures are also discussed.

Biopsy↗
PubMed1990

Eccrine syringofibroadenoma (Mascaró). An acrosyringeal hamartoma.

Two patients with eccrine syringofibroadenomas were studied. The first patient had a 3-year history of asymptomatic, unilateral, linear, moist mosaic plaques of the lower part of the left leg and foot; the second patient had a solitary papule on the back. Histologically, both tumors exhibited superficial elongated strands of eccrine ductal epithelium containing occasional lumina lined by an eosinophilic cuticle. The stroma was loose, myxoid, and fibrovascular. The secretory portions of the eccrine glands were ectatic in the first patient but were not seen in the second patient. We believe these lesions represent acrosyringeal hamartomas (nevi), although some authors interpret them as adenomas. The literature seems to indicate that lesions with similar histologic features may be solitary, multiple, or combined with other neoplasms; in other cases, the lesions may possibly represent an unusual morphologic expression of hidrotic ectodermal dysplasia.

Adenoma↗
PubMed1978

[Keratodermic genodermatosis with hydrocystomas, miliary cysts, xanthelasmas, nail and dental dystrophies, and basal cell epitheliomas].

Two cases of a condition including palms and soles keratoderma, ectodermal dysplasias and basal cell epitheliomas are reported by the authors, with clinical, genetical and pathological data. The condition is called Keratodermal Genodermatose with hydrocystomas, milium cysts, xanthelasma, dental and nail dysplasias and basal cell epitheliomata (Borda's syndrome).

Abnormalities, Multiple↗
PubMedDate not supplied

[Status epilepticus induced by prolonged immersion in hot herb bath: report of one case].

A 6-year-old girl with cerebral palsy developed conscious disturbance and generalized convulsion after one-hour hot herb drug bath. Physical examination on admission revealed rectal temperature 41 degrees C, hot skin, respiration 46/min, regular heart beat 98/min, BP 130/60 mmHg, Glascow coma scale 4 (E2M1V1), soft and flat abdomen, no hepatosplenomegaly, no skin rash, no focal neurological sign, increased generalized muscle ton. Laboratory data showed CBC: WBC 20400 cumm (Neutrophils 31%, Lymphocytes 69%), Hb 11.6gm%, ESR 11 mm/hr, arterial blood gas: PH 7.077, PO2 43mmHg, PCO2 57.1mmHg, HCO3- 16 mEq/L, BE-11.5mEq/L, serum sodium 143 mEq./L, potassium 5.2 mEq/L, chloride 101 mEq/L, free calcium ion 3.8mg%, GOT 63IU/L, GPT 263 IU/L, amylase 193 IU/L, alkaline phosphatase 388 IU/L, LDH 1245 IU/L, CPK 677 IU/L, total bilirubin 0.8 mg/dl, direct type 0.1 mg/dl, BUN 18 mg/dl, Glucose 35 mg/dl. Urinalysis revealed proteinuria( ) trace hematuria and pyuria, but no cast. Lumbar puncture is within normal limits. Bacteriology including blood and CSF are normal. Multiple organ failure was noted at that time. Intensive cooling methods were performed including central and peripheral cooling. We used luminal and valium to control the seizure. Condition didn't improve. Afterwards cardiopulmonary arrest developed. Patient expired 8 hours after admission despite of resuscitation. Heat stroke in infancy and childhood is different from that in adulthood. The predisposing factors are high ambient temperature, dehydration, very young baby, sweat gland dysfunction, or ectodermal dysplasia. Definition of heat stroke includes 1) rectal temperature above 41 degrees C, 2) behavioral change, 3) warm skin, wet or dry.(ABSTRACT TRUNCATED AT 250 WORDS)

Baths↗
PubMed1989

[The Ellis-van Creveld syndrome].

A case of Ellis-Van Creveld syndrome is presented. The diagnosis was established after birth and was based on three major symptoms: unproportionally small stature, hexadactylism and ectodermal dysplasia. The heart finding was normal and the other laboratory tests were negative. Other symptoms were less important for this syndrome. It is a chondroectodermal dysplasia of autosomal recessive type. Reports from the literature are discussed as well, especially symptoms that are rarely found in such patients. This report is intended to point out the effective role of ultrasonography in establishing the early diagnosis of this syndrome in prenatal period.

Ellis-Van Creveld Syndrome↗
PubMed1979

A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).

Cleft Lip↗