Prosthetic Rehabilitation in a Child with Hereditary Ectodermal Dysplasia

Hereditary ectodermal dysplasia is a disease linked to the X recessive chromosome that affects the development of tissues derived from the ectoderm. The main clinical manifestations include hypohidrosis (inability to sweat), hypotrichosis (sparse hair) and hypodontia (lack teeth). This work presents a clinical case of a 6-year old male child who had been diagnosed with hereditary ectodermal dysplasia. The treatment consisted of the fabrication of a mandibular and maxillary complete denture to improve his esthetic, functional and psychological conditions.

Síndrome de Ross en un paciente pediátrico: reporte de caso / Ross syndrome in a pediatric patient: case report

Se presenta el caso de un paciente de 6 años de edad con hipohidrosis segmentaria en el hemicuerpo derecho, pupila tónica de Adie e hiporreflexia ipsilateral. Con esta tríada se hizo el diagnóstico clínico de la tríada del síndrome de Ross. La importancia de este caso radica en la identificación de la hipohidrosis como una manifestación de un desorden autonómico. Su fisiopatología es la denervación posganglionar de las fibras colinérgicas parasimpáticas entre el ganglio ciliar y el iris (pupila tónica), degeneración presináptica de las fibras de la raíz dorsal que transmiten el impulso al asta ventral (hiporreflexia) y la degeneración de las fibras simpáticas posganglionares de las glándulas sudoríparas, su causa no es clara. El curso es crónico, con extensión variable del área dishidrótica. Los pacientes pueden tener compromiso de la termorregulación y alteración en la calidad de vida, por lo que debe enseñarse al paciente y cuidadores estrategias para evitar el sobrecalentamiento corporal.

This the case of a 6 year old with segmental hypohidrosis in the right side of his body, ipsilateral tonic pupil and hiporreflexia. This triad leads to the clinical diagnosis of the Ross Syndrome. The relevance of this case is the recognition of the hypohidrosis as a sign of an autonomic disorder. The Ross syndrome is a progressive benign autonomic disorder, the pathophysiology is the denervation of parasympathetic postganglionic cholinergic fibers between the ciliary ganglion and iris (pupil tonic), presynaptic degeneration of dorsal root fibers (hyporeflexia) and degeneration of the postganglionic sweat glands fibers. The cause is unclear. The course is chronic, with variable extension of the hypohidrosis. Patients may get compromise of thermoregulation and impaired quality of life, that is why the patients and caregivers should be warning and learn the strategies to avoid body overheating.

Displasia ectodérmica: Un reporte de caso

La displasia ectodérmica (DE) es un trastorno genético que se caracteriza por alteraciones que afectan las estructuras derivadas del ectodermo; usualmente el síndrome presenta hipohidrosis, hipotricosis e hipodoncia, siendo esta última una manifestación importante para los profesionales en odontología. Se presenta el caso de un paciente que acude a consulta odontológica y en el que se identificaron defectos del ectodermo como cabello fino, escaso y alteraciones en la calidad del esmalte dental que sugieren la presencia de DE; además, se realizó una comparación con los tipos de DE más comunes.

Ectodermal Dysplasia (ED) is a genetic disorder characterized by alterations affecting the derived ectoderm structures; the syndrome usually presents hypohidrosis, hypotrichosis and hypodontia, the latter being a fairly significant event for dentists. This case report aimed to show a patient who went to a dentistry appointment and where ectodermal defects such as poor thin hair and enamel quality alterations suggested an ED case; also a comparison of ED types was done.

Syndrome in question

Abstract Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.

Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up

Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.

Síndrome Bazex-Dupré-Christol: serie de casos / Bazex-Dupré-Christol syndrome: Case series

El síndrome de Bazex-Dupré-Christol es una genodermatosis ligada al cromosoma X, la cual se caracteriza por presentar hipotricosis congènita, hipohidrosis, atrofodermia folicular, múltiples quistes de millium y carcinomas basocelulares. Presentamos a una niña y su familia con este síndrome. La paciente y sus hermanos de 5 meses de edad y de 17 años de edad presentaban múltiples quistes de millium e hipotricosis de las cejas y el cuero cabelludo. Su hermano de 8 años presentaba quistes de millium y atrofodermia folicular. Su madre presentaba hipohidrosis, hipotricosis congènita del cuero cabelludo y las cejas, así como también una lesión tumoral en la región paranasal derecha compatible con carcinoma basocelular. Destacamos la importancia del diagnóstico y del seguimiento clínico de estos niños por la posibilidad de desarrollar carcinomas basocelulares.

Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis. Her 8 year old brother had multiple milia and follicular atrophoderma. Her mother had hypohidrosis and congenital scalp and eyebrows hypotrichosis, as well as a right paranasal lesion suggestive of basal cell carcinoma. We emphasize the importance of precise diagnosis and clinical follow up of these patients due to the possibility of developing basal cell carcinomas.

First case of congenital idiopathic hypohidrosis in China

AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.

Idiopathic Segmental Anhidrosis with Hyporeflexia: Incomplete Ross Syndrome

No abstract available.

Displasia ectodérmica hipohidróticaa en dos hermanas / Hypohidrotic ectodermal dysplasia in two sisters

La displasia ectodérmica hipohidrótica es un síndrome congénito, caracterizado por la tríada hipohidrosis, hipotricosis e hipodoncia no progresivas. La forma más común es lade herencia recesiva ligada al cromosoma X, aunque también existe una autosómica recesiva y otra dominante. Su tratamiento incluye un manejo interdisciplinario, con medidas de soporte para las manifestaciones clínicas del trastorno y el asesoramiento genético familiar.

Hypohidrotic ectodermal dysplasia is a congenital syndrome characterized by the triad of hypohidrosis, hypotrichosis and non-progressivehypodontia. The most common form is the one inherited in a recessive X-linked way, although there is also an autosomal recessive and a dominant ones. Treatment includes the interdisciplinary management, supportive for the clinical manifestations of the disorder and family genetic counseling.

Ectodermal dysplasia: familial report of six cases.

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. There are two main types, Hypohidrotic/Christ-Seimens- Tourian Syndrome and Hidrotic/Clouston syndrome. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression and protuberant lips. Intraorally common findings are anodontia or hypodontia and conical shaped teeth. The patient may suffer from dry skin, hyperthermia and unexplained high fever because of the deficiency of sweat glands. The present article reports unique case series of ectodermal dysplasia cases in two families, where three generations in the both the families were affected.

Harlequin syndrome in childhood: case report / Síndrome de Arlequim na infância: relato de caso

Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination.

A Síndrome de Arlequim ocorre em apenas um lado da face. No metade afetada, a face não produz suor ou flushing, mesmo estimulada. Braços e tórax raramente podem ser afetados. Esta condição é geralmente induzida por calor, exercícios e fatores emocionais. O artigo relata um caso de uma menina de 9 anos de idade com uma história de 3 anos de flushing e sudorese unilaterais no rosto após exercícios e inclui uma revisão da literatura. Apesar da raridade desta síndrome, dermatologistas devem reconhecer esta condição e encaminhar estes pacientes a um exame oftalmológico e neurológico.

Efficacy of Stellate Ganglion Block in Cholinergic Urticaria with Acquired Generalized Hypohidrosis

Cholinergic urticaria with acquired generalized hypohidrosis, and its pathophysiology is not well known. Autoimmunity to sweat glands or to acetylcholine receptors on sweat glands has been mentioned as one of the possible etiologies. Systemic steroid therapy, antihistamines, anticholinergics, and avoidance of the stimulatory situations are recommended for treatment. We experienced a case of cholinergic urticaria with acquired generalized hypohidrosis in a patient who had no other associated disease, and the symptoms eased after repeated bilateral stellate ganglion block. Stellate ganglion block normalized the elevated sympathetic tone and may relieve symptoms in patients with this condition.

Achados fonoaudiológicos na insensibilidade congênito a dor com anidrose: relato de caso / Speech-language findings on pain congenital insensitivity with anhydrosis: case report

OBJETIVO: relatar um caso de insensibilidade congênita a dor com anidrose de uma criança de 3 anos de idade, assim como discutir os achados fonoaudiológicos, em relação aos aspectos do sistema estomatognático, destacando-se o processo de reabilitação dos órgãos fonoarticulatórios. MÉTODOS: relato de caso, baseado nos dados colhidos na anamnese, avaliação clínica, busca em prontuários e entrevista com responsável. RESULTADOS: verificou-se um déficit considerável em todas as funções estomatognáticas, presença de lesões auto-mutilantes com perda tecidual em língua, lábios, mãos e dedos, o que acarretou uma desnutrição grave, quadros de anemia e freqüentes internações. Após intervenção fonoaudiológica, a paciente vem obtendo melhora nas funções acima afetadas, tonicidade dos órgãos fonoarticulatórios, regressão da desnutrição, anemia, auto-mutilação e traumas decorrentes da insensibilidade aos estímulos dolorosos. CONCLUSÃO: a terapia fonoaudiológica neste relato de caso é necessária pela possibilidade de retardar sintomas que aparecerão com a progressão da doença. Dessa maneira, a atuação precoce da fonoaudiologia em consonância com os demais profissionais da equipe de saúde, pode retardar a evolução do quadro clinico, visando uma melhor qualidade de vida para o paciente e para sua família.

PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for speech and hearing organs. METHODS: case report, based on the data gathered in the anamnesis, clinical evaluation and interviews with child's parents. RESULTS: a considerable deficit was verified in all the stomatognathic's function, presence of self-mutilation behavior with loss tissue in tongue, lips, hands and fingers that gave rise to a severe malnutrition, anemia pictures and frequent hospital internments. After the speech-language pathologist therapy program the patient has been obtaining improvement in the aforementioned affected functions, tonicity of the speech and hearing organs, and regression of malnutrition, anemia, self-mutilation and current traumas of the insensibility to the painful stimulus. CONCLUSION: the speech-language therapy in this case report is important, pointing out for the possibility of delaying symptoms that will appear with the progression of the disease. In that way, the early performance of the speech-language pathologist in consonance with the other health professionals, may retard the evolution of the clinical picture, seeking a better quality of life for the patients and for their family.

Predictive value of cobalt chloride solution for hypohidrosis with topiramate / 소아과

PURPOSE: The aims of this study were to verify the incidence of hypohidrosis and to determine the predictive value of noninvasive indicator test (Neurocheck(TM)) for sweating after administration of topiramate in newly diagnosed pediatric epileptic patients. METHODS: A total of 46 epileptic patients (22 boys; 24 girls) on topiramate treatment were evaluated in this study at the Department of Pediatrics, Chonbuk National University Hospital, from October 2004 to July 2005. We measured sweating functions using a noninvasive sweating test (Neurocheck(TM)) before topiramate medication, and after 3 months when topiramate reached its target dosage. We performed a direct questionnaire survey for the hypohidrosis related symptoms during topiramate treatment. RESULTS: The mean age was 7.8+/-3.2 year. The mean dosage of topiramate was 4.5+/-0.8 mg/kg/day. Among the patients, there were 40 complex partial seizures, one simple partial seizure, two partial seizures with secondarily generalization, two generalized seizures, and one Lennox-Gastaut syndrome case. Of the 46 epileptic patients, 17 patients (37.0 percent) experienced hypohidrosis and hypohidrosis related symptoms, 12 (26.1 percent) had facial flushing, four (8.7 percent) had heat intolerance, one (2.2 percent) had lethargy, but no one had anhidrosis. Among the 17 patients, the mild group numbered 12 and the severe group totalled five. Hypohidrosis by Neurocheck(TM) was diagnosed in 16 patients. The overall measures of agreement between Neurocheck(TM) and the survey was 76.5 percent. The specificity of this test was 89.7 percent. Patients who showed a time delay after medication, especially over 3 minutes, were seen only in the severe group. CONCLUSION: Neurocheck(TM) could be clinically useful to detect and predict topiramate induced hypohidrosis in pediatric epileptic patients. We recommend that patients who show a delay over 3 minutes in Neurocheck(TM) test after topiramate initiation should be monitored for hypohydrosis.

Harlequin Syndrome with Crossed Sympathetic Deficit of the Face and Arm

Harlequin syndrome is characterized by unilateral hyperhidrosis and flushing, which are predominantly induced by heat or exercise. Usually, the sympathetic deficits confine to the face. Rarely, the autonomic deficits involve the arm or the parasympathetic neurons in the ciliary ganglia. We report a 43-yr-old woman who presented with facial flushing and sweating in the right side, which were mainly induced by exercise. The facial flushing accompanied relative coldness in the right arm. Valsalva maneuver, cold pressure and 0.125% pilocarpine test, and computed tomography of the chest were normal. The crossed sympathetic deficit in the left face and right arm suggested that the lesions were multifocal. The sympathetic impairment in our patient may lie on a spectrum of pre- and postganglionic autonomic dysfunction, which was observed in Holmes-Adie, Ross, and Guillain-Barre syndrome.

Congenital insensitivity to pain with anhidrosis: a case report

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.