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1.
Med. leg. Costa Rica ; 37(1): 138-145, ene.-mar. 2020.
Article in Spanish | LILACS | ID: biblio-1098381

ABSTRACT

Resumen El Síndrome de Horner (SH) es una condición provocada por un grupo heterogéneo de patologías. Estas tienen en común el daño de la vía simpática. La localización más común de la lesión es a nivel preganglionar, por trauma o cirugías en región cervical, torácica o ápex pulmonar. El diagnóstico es primordialmente clínico mediante la identificación de la triada de miosis, ptosis y anhidrosis. Se confirma con las pruebas para cocaína e hidroximetanfetamina. El tratamiento se lleva a cabo primero con agentes farmacológicos. Los que tienen disminución del campo visual por la ptosis o por razones cosméticas se llevan a tratamiento quirúrgico. En ese caso los abordajes operatorios recomendados para ptosis leve son el procedimiento de Fasanella-Servat, el avance de aponeurosis del elevador y en casos severos el cabestrillo frontal. El objetivo es hacer una revisión de los algoritmos diagnósticos y terapéuticos del SH para lograr un abordaje sistemático debido a las múltiples etiologías que posee.


Abstract Horner Syndrome is a condition caused by a heterogeneous group of pathologies. These have in common the damage of the sympathetic pathway. The most common location of the lesion is at the preganglional level, due to trauma or surgeries in the cervical, thoracic or pulmonary apex region. The diagnosis is primarily clinical by identifying the triad of myosis, ptosis and anhidrosis. It is confirmed with the cocaine and hydroxymethamphetamine tests. Treatment is first carried out with pharmacological agents. Those with diminished visual field due to ptosis or cosmetic reasons are undergoing surgical treatment. In this case, the recommended operative approaches for mild ptosis are the Fasanella-Servat procedure, the elevator aponeurosis advance and, in severe cases, the frontalis sling. The objective is to review the diagnostic and therapeutic algorithms of SH in order to achieve a systematic approach due to the multiple aetiologies it possesses.


Subject(s)
Humans , Horner Syndrome/diagnosis , Blepharoptosis/diagnosis , Anisocoria/diagnosis , Autonomic Pathways/pathology , Hypohidrosis/diagnosis
2.
Asia Pacific Allergy ; (4): e3-2019.
Article in English | WPRIM | ID: wpr-750171

ABSTRACT

Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. He presented with a history of dry skin, eczema, and food allergy to egg. On clinical examination, his body temperature was 38.8°C, with dry skin and eczema almost all over the body, sparse eyebrows, and scalp hair. Laboratory investigations and physical examination did not show any evidence of infection. Radioallergosorbent test was positive to egg yolk, egg white, ovomucoid, milk, house dust, and house dust mite. As the child did not sweat despite the high fever, we performed the sweat test which revealed a total lack of sweat glands. Genetic examination revealed a mutation of the EDA gene and he was diagnosed as AED. His pyrexia improved upon cooling with ice and fan. His mother had lost 8 teeth and her sweat test demonstrated low sweating, suggestive of her being a carrier of AED. Atopy and immune deficiencies have been shown to have a higher prevalence in patients with AED. Disruption of the skin barrier in patients with AED make them more prone to allergic diseases such as atopic eczema, bronchial asthma, allergic rhinitis and food allergy. Careful assessment of the familial history is essential to differentiate AED when examining patients with pyrexia of unknown origin and comorbid allergic diseases.


Subject(s)
Asthma , Body Temperature , Child , Dermatitis, Atopic , Dust , Ectodermal Dysplasia , Eczema , Egg White , Egg Yolk , Eyebrows , Fever , Food Hypersensitivity , Hair , Humans , Hypohidrosis , Ice , Infant , Male , Milk , Mothers , Ovomucin , Ovum , Physical Examination , Prevalence , Pyroglyphidae , Radioallergosorbent Test , Rhinitis, Allergic , Scalp , Skin , Sweat , Sweat Glands , Sweating , Tooth
3.
Article in Korean | WPRIM | ID: wpr-787388

ABSTRACT

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disorder; affected patients are characterized by inability to feel pain and to sweat over the entire body, as well as by mental retardation. Because, in the oral examination, no specific findings on soft or hard tissue may be found except possible lesions due to self-mutilation, early recognition and diagnosis are essential for these patients. Pediatric dentists must be aware of the clinical manifestations and treatment considerations related to uncontrolled body temperature, tactile hyperesthesia and lack of pain reflex. In this case report, dental management of CIPA was suggested by presenting a 6-year follow-up of young patient.


Subject(s)
Body Temperature , Dentists , Diagnosis , Diagnosis, Oral , Follow-Up Studies , Hereditary Sensory and Autonomic Neuropathies , Humans , Hyperesthesia , Hypohidrosis , Intellectual Disability , Pain Insensitivity, Congenital , Reflex , Sweat
4.
Article in English | WPRIM | ID: wpr-786468

ABSTRACT

A 45-year-old male visited our clinic due to right palmar anhidrosis and contralateral hyperhidrosis. Chest computed tomography (CT) showed a solitary pulmonary nodule with mediastinal lymph node enlargement, but a cause for atypical palmar anhidrosis was not identified. Subsequent fluorine-18-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed (PET/CT) revealed a localized pleural metastasis at the right apex with direct invasion of the paravertebral sympathetic chain. The pleural metastasis, which was not seen on chest CT, evoked ipsilateral anhidrosis independent of a mass effect or direct invasion by the primary lung tumor. 18F-FDG PET/CT can be helpful in identifying the cause of atypical symptoms in patient with small sized lung cancer.


Subject(s)
Adenocarcinoma , Electrons , Fluorodeoxyglucose F18 , Humans , Hyperhidrosis , Hypohidrosis , Lung Neoplasms , Lung , Lymph Nodes , Male , Middle Aged , Neoplasm Metastasis , Positron Emission Tomography Computed Tomography , Solitary Pulmonary Nodule , Thorax , Tomography, X-Ray Computed
5.
Article in English | WPRIM | ID: wpr-760857

ABSTRACT

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.


Subject(s)
Acute Kidney Injury , Adolescent , Brain , Calcium , Copper , Genes, Recessive , Gitelman Syndrome , Hepatitis , Hepatolenticular Degeneration , Humans , Hydrogen-Ion Concentration , Hypohidrosis , Intellectual Disability , Kidney , Liver , Magnesium , Male , Metabolism , Pancreatitis , Potassium , Sensation
6.
An. bras. dermatol ; 93(4): 585-586, July-Aug. 2018. graf
Article in English | LILACS | ID: biblio-949923

ABSTRACT

Abstract: Harlequin syndrome is a rare condition in which one half of the face fails to flush and sweat due to damage of the sympathetic fibers on the ipsilateral side. The majority of cases are idiopathic, but may be iatrogenic or caused by space-occupying lesions or brainstem infarction. We report a case of idiopathic harlequin syndrome in a 34-year-old man with a 5-month history of unilateral facial flushing and sweating after exercise. Despite the rarity of this syndrome, dermatologists should be aware of this condition in order to diagnose properly and provide multidisciplinary assistance.


Subject(s)
Humans , Male , Adult , Autonomic Nervous System Diseases/diagnosis , Flushing/diagnosis , Hypohidrosis/diagnosis
7.
Rev. méd. Minas Gerais ; 28: [1-3], jan.-dez. 2018.
Article in Portuguese | LILACS | ID: biblio-970563

ABSTRACT

A síndrome de Horner resulta de uma lesão das fibras simpáticas destinadas ao olho e classicamente se apresenta com ptose palpebral parcial, miose e anidrose de uma hemiface ipsilateral ao local acometido. As causas mais comuns relacionadas a ela são o traumatismo cirúrgico de estruturas cervicais, dissecção da carótida interna e processos neoplásicos, principalmente tumor de Pancoast, raramente relacionase com neoplasia esofagiana. Neste relato de caso descrito, a paciente apresenta síndrome de Horner secundária a um tumor de esôfago. A atenção ao exame físico e a propedêutica adequada fazem total diferença na detecção desta síndrome necessitando de exames complementares para elucidar a sua etiologia. O tratamento pode ser eficaz quando se detecta precocemente a causa. (AU)


Horner's syndrome results from a lesion of sympathetic fibers to eye and classically presents with partial ptosis, miosis and anhidrosis of the ipsilateral hemifacial the affected site. The most common causes related to it are the surgical trauma of cervical structures, dissection of the internal carotid and neoplastic processes, especially tumor Pancoast, rarely related to esophageal cancer. In this report the case described, the patient has Horner syndrome secondary to esophageal tumor. Attention to physical examination and appropriate workup make all the difference in the detection of this syndrome requiring additional tests to elucidate its etiology. The treatment may be effective if early detect the cause. (AU)


Subject(s)
Humans , Female , Middle Aged , Horner Syndrome , Esophageal Neoplasms , Blepharoptosis , Miosis , Hypohidrosis
8.
Article in English | WPRIM | ID: wpr-715203

ABSTRACT

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma α-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.


Subject(s)
Angiokeratoma , Child , Cornea , Fabry Disease , Humans , Hypertrophy, Left Ventricular , Hypohidrosis , Lysosomal Storage Diseases , Male , Mothers , Neurologic Manifestations , Plasma , Siblings
9.
Rev. ecuat. pediatr ; 18(2): 26-28, diciembre 2017.
Article in Spanish | LILACS | ID: biblio-996600

ABSTRACT

Presentamos el caso de un neonato sin antecedentes familiares ni prenatales de importancia, con peso bajo para la edad, fascies envejecida, puente nasal ancho, hipotricosis, piel descamativa, apergaminada, seca y hepatomegalia, aparente hipohidrosis con episodios de hipertermia, fenotipo compatible con displasia ectodérmica hipohidrótica, por alteraciones en la diferenciación y desarrollo de estructuras ectodérmicas: piel, pelo, dientes y glándulas sudoríparas, alteración en las señales entre ectodermo y mesénquima, además de mayor riesgo de desarrollar alteraciones inmunológicas y en la supresión de tumores. Este paciente requiere cuidados dérmicos y evitar la hipertemia que puede ocasionar un daño cerebral fatal, tratamiento dental precoz para restaurar la función, monitoreo permanente de función auditiva y oftálmica, consejo genético a la familia; y al asociarse con inmunodeficiencia puede requerir terapias de restitución inmune, tratamientos agresivos de las infecciones asociadas y/o un trasplante de células madre hematopoyéticas, según la evolución clínica.


This is the case of a newborn without family history of important diseases, with low weight for age, aged fascies, broad nasal bridge, hypotrichosis, desquamative skin, parchment, dry and hepatomegaly, apparent hypohidrosis with episodes of hyperthermia, phenotype compatible with dysplasia ectodermic hypohydrotic, by alterations in the differentiation and development of ectodermal structures: skin, hair, teeth and sweat glands, alteration in the signals between ectoderm and mesenchyme, as well as a greater risk of developing immunological alterations and tumor suppression. This patient requires dermal care and avoids the hyperthermia that can cause fatal brain damage, early dental treatment to restore function, permanent monitoring of auditory and ophthalmic function, genetic counseling to the family, and to associate with immunodeficiency, probably, requires therapies of immune restitution, aggressive treatments of associated infections and / or a transplant of hematopoietic stem cells, according to the clinical evolution.


Subject(s)
Humans , Male , Infant, Newborn , Congenital Abnormalities , Ectodermal Dysplasia , Genetic Counseling , Hypohidrosis , Hypotrichosis , Anodontia
10.
An. bras. dermatol ; 91(1): 111-112, Jan.-Feb. 2016. graf
Article in English | LILACS | ID: lil-776417

ABSTRACT

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.


Subject(s)
Humans , Male , Middle Aged , Peripheral Nervous System Diseases/pathology , Primary Dysautonomias/pathology , Hyperhidrosis/pathology , Hypohidrosis/pathology , Syndrome , Cholinergic Fibers/pathology , Peripheral Nervous System Diseases/physiopathology , Primary Dysautonomias/physiopathology , Hyperhidrosis/physiopathology , Hypohidrosis/physiopathology , Nerve Degeneration/pathology
11.
Article in Korean | WPRIM | ID: wpr-227110

ABSTRACT

Horner syndrome is characterized by miosis, partial blepharoptosis and anhidrosis on the affected side of the face. This syndrome develops when the oculosympathetic nerve pathways to the eye and face are interrupted by various causes such as tumor in the brain, intrathoracic region or neck, surgery, drugs, trauma, carotid artery dissection, and others. It is referred to as painful Horner syndrome when Horner syndrome is accompanied by hemifacial pain. Pain is probably related to trigeminal nerve injury. Horner syndrome is a rare complication of thyroidectomy. Here, we report the case of a patient who experienced ipsilateral painful Horner syndrome after total thyroidectomy and unilateral neck dissection for thyroid cancer.


Subject(s)
Blepharoptosis , Brain , Carotid Artery Injuries , Horner Syndrome , Humans , Hypohidrosis , Miosis , Neck , Neck Dissection , Thyroid Neoplasms , Thyroidectomy , Trigeminal Nerve Injuries
12.
13.
Article in Korean | WPRIM | ID: wpr-20853

ABSTRACT

Ross syndrome is characterized by a triad of segmental anhidrosis, tonic pupil, and generalized areflexia. Selective postganglionic autonomic denervation could be the differential diagnostic point for other diseases of the autonomic nervous system. Here we report a patient with regional anhidrosis in his left hand and sole, and anisocoria. An evaluation of sweating and the pupillary response together with generalized areflexia confirmed the diagnosis of Ross syndrome. The finger wrinkle test is a simple and useful tool for revealing segmental sympathetic denervation.


Subject(s)
Anisocoria , Autonomic Denervation , Autonomic Nervous System , Diagnosis , Fingers , Hand , Humans , Hypohidrosis , Sweat , Sweating , Sympathectomy , Tonic Pupil
14.
An. bras. dermatol ; 90(5): 731-733, graf
Article in English | LILACS | ID: lil-764417

ABSTRACT

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.


Subject(s)
Adult , Humans , Male , Apocrine Glands/abnormalities , Eccrine Glands/abnormalities , Hypohidrosis/congenital , Hypohidrosis/pathology , Axilla , Apocrine Glands/pathology , China , Eccrine Glands/pathology , Immunohistochemistry
17.
Article in English | WPRIM | ID: wpr-152496

ABSTRACT

BACKGROUND: Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. CASE REPORT: We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). CONCLUSIONS: CT evaluation of the skull base is essential to establish this diagnosis and distinguish aplasia from agenesis/hypoplasia (by the absence or hypoplasia of the carotid canal) or from acquired ICA obstruction as demonstrated by angiographic CT.


Subject(s)
Aged , Carotid Artery, Internal , Diagnosis , Horner Syndrome , Humans , Hypohidrosis , Miosis , Paralysis , Skull Base
18.
Dermatol. pediátr. latinoam. (En línea) ; 12(2): 54-57, mayo-ago. 2014. ilus
Article in Spanish | LILACS | ID: lil-788723

ABSTRACT

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.


Subject(s)
Humans , Female , Child , Ectodermal Dysplasia , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive , Anodontia , Hypohidrosis , Hypotrichosis
19.
Article in Korean | WPRIM | ID: wpr-192878

ABSTRACT

Acquired idiopathic generalized anhidrosis (AIGA) is a very rare disease, and its pathogenesis is poorly understood. We here report on a 20-year-old man presenting with a history of inability to sweat, small wheals, and occasional heat intolerance since 3 months. On provocation test, there was no sweating over the entire surface of the body, excluding the palms and axillae. His medical history was unremarkable and laboratory examination findings were all normal. There was no familial history suggestive of neuroendocrine disease. Based on these findings, we diagnosed acquired idiopathic generalized anhidrosis. To our knowledge, this is the first case of AIGA in Korean dermatologic literature. Herein, we report a rare case of AIGA.


Subject(s)
Axilla , Hot Temperature , Humans , Hypohidrosis , Rare Diseases , Sweat , Sweating , Young Adult
20.
Annals of Dermatology ; : 385-391, 2014.
Article in English | WPRIM | ID: wpr-208746

ABSTRACT

Mycosis fungoides is the most common form of cutaneous T-cell lymphoma, and it rarely exhibits predilection for hair follicle and eccrine gland infiltration. Here, we present 2 similar cases that display folliculotropism with varying amounts of follicular mucinosis, with and without syringotropism. The features observed in both cases were cystic, comedo-like, acneiform lesions; generalized involvement with loss of body hair; pruritus; and hidradenitis suppurativa-like lesions. Hypohidrosis as well as nail and palmoplantar involvement with lichen planopilaris-like clinical features were unique characteristics of the first case. Despite the well-known aggressive behavior of follicular mycosis fungoides, the presented cases had a subtle, slowly progressive, but persistent, clinical course. Folliculotropic and syringotropic mycosis fungoides are variants of cutaneous T-cell lymphoma. Clinical presentations might be challenging, and multiple, deep biopsy specimens containing adnexal structures are required for this critical diagnosis. Aggressive treatment may not be necessary in cases having an indolent course, especially in those with syringotropism.


Subject(s)
Biopsy , Diagnosis , Eccrine Glands , Hair , Hair Follicle , Hidradenitis , Hypohidrosis , Lichens , Lymphoma , Lymphoma, T-Cell, Cutaneous , Mucinosis, Follicular , Mycosis Fungoides , Pruritus
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