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.
Adenocarcinoma ; Electrons ; Fluorodeoxyglucose F18 ; Humans ; Hyperhidrosis ; Hypohidrosis ; Lung Neoplasms ; Lung ; Lymph Nodes ; Male ; Middle Aged ; Neoplasm Metastasis ; Positron-Emission Tomography and Computed Tomography ; Solitary Pulmonary Nodule ; Thorax ; Tomography, X-Ray Computed

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.
Body Temperature ; Dentists ; Diagnosis ; Diagnosis, Oral ; Follow-Up Studies ; Hereditary Sensory and Autonomic Neuropathies ; Humans ; Hyperesthesia ; Hypohidrosis ; Intellectual Disability ; Pain Insensitivity, Congenital ; Reflex ; Sweat

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.
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

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.
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

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.
Angiokeratoma ; Child ; Cornea ; Fabry Disease* ; Humans ; Hypertrophy, Left Ventricular ; Hypohidrosis ; Lysosomal Storage Diseases ; Male* ; Mothers ; Neurologic Manifestations ; Plasma ; Siblings

Adult ; Basal Ganglia Hemorrhage ; complications ; diagnostic imaging ; Humans ; Hypohidrosis ; diagnostic imaging ; etiology ; Intracranial Arteriovenous Malformations ; complications ; diagnostic imaging ; Intracranial Hemorrhages ; complications ; diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Rupture ; Thalamus ; diagnostic imaging ; Third Ventricle ; diagnostic imaging ; Tomography, Optical Coherence

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.
Blepharoptosis ; Brain ; Carotid Artery Injuries ; Horner Syndrome* ; Humans ; Hypohidrosis ; Miosis ; Neck ; Neck Dissection ; Thyroid Neoplasms ; Thyroidectomy* ; Trigeminal Nerve Injuries

No abstract available.
Hypohidrosis* ; Pain Insensitivity, Congenital*

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.
Anisocoria* ; Autonomic Denervation ; Autonomic Nervous System ; Diagnosis ; Fingers* ; Hand ; Humans ; Hypohidrosis* ; Sweat ; Sweating ; Sympathectomy ; Tonic Pupil

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.
Aged ; Carotid Artery, Internal* ; Diagnosis ; Horner Syndrome* ; Humans ; Hypohidrosis ; Miosis ; Paralysis ; Skull Base