-
Frontiers in Endocrinology 2022There has been limited focus on sweating failure in patients with brain tumor. We report two patients with generalized anhidrosis caused by germinoma. We also review... (Review)
Review
PURPOSE
There has been limited focus on sweating failure in patients with brain tumor. We report two patients with generalized anhidrosis caused by germinoma. We also review previous reports of generalized anhidrosis due to brain tumor.
CASE REPORTS
Patient 1 was a 12-year-old boy with repetitive heat shock-like episodes even in winter. Based on Minor's test, he was diagnosed with generalized anhidrosis. Magnetic resonance imaging (MRI) revealed the absence of high signal intensity of the posterior pituitary. He was initially diagnosed with central diabetes insipidus. However, an MRI scan performed after 3 months revealed an enlarged pituitary stalk. He was finally diagnosed with germinoma by pituitary biopsy. After chemotherapy and radiation, sweating was partially resolved. Patient 2 was a 12-year-old girl with growth hormone deficiency and generalized anhidrosis. She was diagnosed with germinoma based on MRI and pituitary biopsy findings. After chemotherapy and radiation, the sweating resolved completely.
DISCUSSION
In our literature search, we identified four patients with anhidrosis due to brain tumor, including our cases. All patients had germinoma and continued to require hormone replacement therapy after treatment of germinoma. Two patients with incomplete recovery of sweating had the involvement in the hypothalamus, whereas one patient with complete recovery showed a lack of evident hypothalamic involvement. Improvement in sweating in one patient was not described.
CONCLUSION
Germinoma can cause anhidrosis, and involvement in the hypothalamus may be relevant to incomplete recovery of sweating.
Topics: Brain Neoplasms; Child; Diabetes Insipidus, Neurogenic; Female; Germinoma; Humans; Hypohidrosis; Male; Pituitary Diseases
PubMed: 35721739
DOI: 10.3389/fendo.2022.877715 -
Current Genomics Jan 2018Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including... (Review)
Review
INTRODUCTION
Fabry Disease (FD), the second most common lysosomal storage disorder after Gaucher disease, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity pain, renal impairment, cardiac complications and cerebrovascular manifestations. It is caused by mutations in the α-galactosidase A gene (gene symbol GLA) on chromosome Xq22, which leads to deficiency of lysosomal α-galactosidase A (α-Gal A), and subsequent accumulation of glycosphingolipids in various tissues and organs. The aim of this study is to identify the disease-causing mutation in a five-generation Chinese family with FD. A c.782G>T transversion (p.G261V) in the GLA gene was identified in four patients and two asymptomatic carriers by direct sequencing, and it co-segregated with the disease in the family. The variant is predicted to be disease-causing mutation and result in seriously abnormal function of α-Gal A. Four patients in this family present with classic phenotype of FD, including acroparesthesias, hypohidrosis, angiokeratomas and intermittent burning pain in extremity.
CONCLUSION
The disease severity is similar among male and female patients. Our study extends the genotype-phenotype relationship between mutations in the GLA gene and clinical findings of FD, which may be helpful in the genetic counseling of patients with FD.
PubMed: 29491734
DOI: 10.2174/1389202918666170915155033 -
The American Journal of Case Reports Jan 2021BACKGROUND Fibrosing mediastinitis is a rarely seen, progressive disease. It results from an excessive fibrotic reaction in the mediastinum. We describe a presentation...
BACKGROUND Fibrosing mediastinitis is a rarely seen, progressive disease. It results from an excessive fibrotic reaction in the mediastinum. We describe a presentation of fibrosing mediastinitis that, to our knowledge, has never been seen before. CASE REPORT A 30-year-old female Colombian flight attendant presented with a right eyelid droop. Examination revealed partial right-sided ptosis and miosis but no anhidrosis. An ill-defined firm swelling was palpable at the root of the neck. Chest radiography revealed a widened mediastinum, and computerized tomography (CT) showed a right paratracheal mass without calcification extending to the thoracic inlet, encasing multiple blood vessels. All basic blood tests, magnetic resonance imaging of the head, and ultrasound Doppler of the neck vessels were normal. History and work up for infections including fungal diseases, granulomatous diseases, vasculitis, and autoimmune diseases were negative. Positron emission tomography (PET) showed significant FDG uptake in the mediastinum. Mediastinal biopsy was histologically consistent with fibrosing mediastinitis. All relevant immunohistochemistry and microbiological studies were negative. Subsequently, the patient developed signs of superior vena cava compression; this was managed by balloon angioplasty, which resulted in improvement of symptoms. However, over time, her symptoms worsened progressively, resulting in a left-sided ptosis and radiological progression of the mass on CT. She received treatment with rituximab and concomitant steroids, which yielded excellent results: the treatment led to both resolution of her symptoms and regression of the mass and its metabolic activity on PET scan. CONCLUSIONS Fibrosing mediastinitis can present with an incomplete Horner's syndrome. Treatment with rituximab and steroids shows promising results in select cases of metabolically active idiopathic fibrosing mediastinitis.
Topics: Adult; Blepharoptosis; Female; Humans; Mediastinitis; Miosis; Sclerosis
PubMed: 33431787
DOI: 10.12659/AJCR.927556 -
Cureus Nov 2023Hereditary sensory and autonomic neuropathy type 4 (HSAN4), or congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disorder caused by...
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), or congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disorder caused by mutations in the NTRK1 gene, resulting in pain insensitivity, anhidrosis, and temperature dysregulation. This report focuses on oral manifestations in an 11-year-old girl with CIPA, highlighting the need for early intervention and comprehensive care. The patient had a history of recurrent oral injuries and an unexplained fever, with a confirmed HSAN4 diagnosis through genetic analysis. Clinical features included pain insensitivity, anhidrosis, and intellectual disability. Dental history revealed emergency care, suboptimal oral hygiene, early tooth loss, and infections. Extra-oral examination showed nail-biting and injuries, while intra-oral assessment revealed ulcers and scars. Radiographic evaluation indicated mandibular alveolar bone thinning and periapical lesions in the lower incisors. This case emphasizes the complex challenges of CIPA, including pain insensitivity, recurring fever episodes, and self-inflicted injuries. Early diagnosis and specific dental care are vital to prevent orofacial trauma, necessitating a proactive interdisciplinary approach for comprehensive care.
PubMed: 38058353
DOI: 10.7759/cureus.48294 -
Cureus Feb 2022Ross syndrome is a rare disorder of the peripheral autonomic nervous system characterized by a triad of tonic pupils with light-near dissociation, segmental anhidrosis,...
Ross syndrome is a rare disorder of the peripheral autonomic nervous system characterized by a triad of tonic pupils with light-near dissociation, segmental anhidrosis, and areflexia. Though having a benign course, the disease can cause significant social embarrassment. Both our cases presented with complaints of segmental facial hyperhidrosis. The first case with a one-year history had findings of segmental anhidrosis up to T4 thoracic level, left tonic pupil, and absent right ankle reflex. While the second case with a history of five years had bilateral tonic pupil, absent lower limb reflexes, anhidrosis of left face, neck, and upper trunk up to T4 level, apart from having associated Horner's syndrome. Minor's (starch-iodine) test and dilute pilocarpine test were helpful for diagnosis in both cases, indicating areas of anhidrosis and pupillary cholinergic denervation hypersensitivity respectively. Both cases were provided counseling and managed conservatively.
PubMed: 35350498
DOI: 10.7759/cureus.22305 -
Medicina (Kaunas, Lithuania) Aug 2023: Sensory ganglionopathy is a rare neurological disorder caused by degeneration of the neurons composing the dorsal root ganglia. It manifests as various sensory...
: Sensory ganglionopathy is a rare neurological disorder caused by degeneration of the neurons composing the dorsal root ganglia. It manifests as various sensory disturbances in the trunk, proximal limbs, face, or mouth in a patchy and asymmetrical pattern. Harlequin syndrome is characterized by unilateral flushing and sweating of the face, neck, and upper chest, concurrent with contralateral anhidrosis. Here, we present and discuss a clinical case of sarcoidosis-associated ganglionopathy and Harlequin syndrome. : A 31-year-old woman complained of burning pain in the right side of the upper chest and the feet. She also experienced episodes of intense flushing and sweating on the right side of her face, neck, and upper chest. Three years before these symptoms began, the patient was diagnosed with pulmonary sarcoidosis. On neurological examination, sensory disturbances were present. In the trunk, the patient reported pronounced hyperalgesia and allodynia in the upper part of the right chest and some patches on the right side of the upper back. In the extremities, hypoalgesia in the tips of the fingers and hyperalgesia in the feet were noted. An extensive diagnostic workup was performed to eliminate other possible causes of these disorders. A broad range of possible metabolic, immunological, and structural causes were ruled out. Thus, the final clinical diagnosis of sarcoidosis-induced sensory ganglionopathy, small-fiber neuropathy, and Harlequin syndrome was made. Initially, the patient was treated with pregabalin and amitriptyline, but the effect was inadequate for the ganglionopathy-induced pain. Therefore, therapeutic plasma exchange as an immune-modulating treatment was selected, leading to partial pain relief. : This case report demonstrates the possible autoimmune origin of both sensory ganglionopathy and Harlequin syndrome. It suggests that an autoimmune etiology for these disorders should be considered and the diagnostic workup should include screening for the most common autoimmune conditions.
Topics: Humans; Female; Adult; Hypohidrosis; Hyperalgesia; Sarcoidosis; Pain; Fingers
PubMed: 37629785
DOI: 10.3390/medicina59081495 -
Neurology India 2022Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic...
OBJECTIVES
Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic profile of six children with HSAN.
METHODS
Hospital records of six children diagnosed with HSAN over 7 years (2011-2018) were retrieved. Clinical features, electrophysiological studies, and genetic reports were collected from the case files.
RESULTS
The presenting clinical features in these six cases were developmental delay, recurrent febrile episodes, rhinitis, recurrent nonhealing ulcers, burns, self-mutilations, chronic osteomyelitis, and corneal ulcers. Electrophysiology studies showed predominant sensory axonal neuropathy. Autonomic features noted were recurrent fever, constipation, abdominal distension, hypertension, and vasomotor rhinitis. Genetic testing was done with next-generation sequencing in all six children. Causative genetic variants were identified in the NTRK1, PRDM12, DST gene, and a novel compound heterozygous variant in the FLVCR1 gene. The diagnosis of HSAN was delayed in most of our children due to variable presentation and lack of awareness among the treating paediatricians.
CONCLUSIONS
Although the clinical presentation of HASN is highly variable, it is dominated by pain and temperature insensitivity and self-mutilation. Our report of six children with HSAN expands the existing knowledge on phenotype and genotype spectrum of HSAN.
Topics: Genotype; Hereditary Sensory and Autonomic Neuropathies; High-Throughput Nucleotide Sequencing; Humans; Phenotype; Self Mutilation
PubMed: 35263888
DOI: 10.4103/0028-3886.338691 -
Cureus Apr 2023Post-thyroidectomy Horner's syndrome (HS) is a rare occurrence, and its probability increases when a modified radical neck dissection is performed. We present a case of...
Post-thyroidectomy Horner's syndrome (HS) is a rare occurrence, and its probability increases when a modified radical neck dissection is performed. We present a case of a patient with papillary thyroid carcinoma who presented with Horner's syndrome one week after the right lateral dissection of the cervical lymph nodes. She underwent a complete thyroidectomy four months prior to this surgery. Both surgeries were uneventful intraoperatively. On examination, the right eye (RE) had partial ptosis with miosis and the absence of anhidrosis. A pharmacological test with phenylephrine 1% was used to localize the interruption of the oculosympathetic pathway with postganglionic third-order neuron involvement. She was treated conservatively, and her symptoms improved over time. Horner's syndrome is a rare and benign complication of post-thyroidectomy surgery with radical neck dissection surgery. Since it does not compromise visual acuity, the disease is constantly overlooked. However, in view of the facial disfigurement and the possibility of incomplete recovery, the patient needs to be forewarned regarding this complication.
PubMed: 37228545
DOI: 10.7759/cureus.38046 -
The Journal of Physiology Nov 2022Loss of function mutations in store-operated Ca entry (SOCE) are associated with severe paediatric disorders in humans, including combined immunodeficiency, anaemia,...
Loss of function mutations in store-operated Ca entry (SOCE) are associated with severe paediatric disorders in humans, including combined immunodeficiency, anaemia, thrombocytopenia, anhidrosis and muscle hypotonia. Given its central role in immune cell activation, SOCE has been a therapeutic target for autoimmune and inflammatory diseases. Treatment for such chronic diseases would require prolonged SOCE inhibition. It is, however, unclear whether chronic SOCE inhibition is viable therapeutically. Here we address this issue using a novel genetic mouse model (SOCE hypomorph) with deficient SOCE, nuclear factor of activated T cells activation, and T cell cytokine production. SOCE hypomorph mice develop and reproduce normally and do not display muscle weakness or overt anhidrosis. They do, however, develop cardiovascular complications, including hypertension and tachycardia, which we show are due to increased sympathetic autonomic nervous system activity and not cardiac or vascular smooth muscle autonomous defects. These results assert that chronic SOCE inhibition is viable therapeutically if the cardiovascular complications can be managed effectively clinically. They further establish the SOCE hypomorph line as a genetic model to define the therapeutic window of SOCE inhibition and dissect toxicities associated with chronic SOCE inhibition in a tissue-specific fashion. KEY POINTS: A floxed stromal interaction molecule 1 (STIM1) hypomorph mouse model was generated with significant reduction in Ca influx through store-operated Ca entry (SOCE), resulting in defective nuclear translocation of nuclear factor of activated T cells, cytokine production and inflammatory response. The hypomorph mice are viable and fertile, with no overt defects. Decreased SOCE in the hypomorph mice is due to poor translocation of the mutant STIM1 to endoplasmic reticulum-plasma membrane contact sites resulting in fewer STIM1 puncta. Hypomorph mice have similar susceptibility to controls to develop diabetes but exhibit tachycardia and hypertension. The hypertension is not due to increased vascular smooth muscle contractility or vascular remodelling. The tachycardia is not due to heart-specific defects but rather seems to be due to increased circulating catecholamines in the hypomorph. Therefore, long term SOCE inhibition is viable if the cardiovascular defects can be managed clinically.
Topics: Animals; Child; Humans; Mice; Calcium; Calcium Signaling; Cytokines; Hypertension; Hypohidrosis; ORAI1 Protein; Stromal Interaction Molecule 1; Cardiovascular System
PubMed: 36181482
DOI: 10.1113/JP283811 -
Orphanet Journal of Rare Diseases Jan 2020X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives....
BACKGROUND
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments.
METHODS
25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys.
RESULTS
All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1-12 deciduous teeth erupted and 0-8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development.
CONCLUSIONS
This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.
Topics: Anthropometry; Child, Preschool; Ectodermal Dysplasia 1, Anhidrotic; Ectodysplasins; Female; Genotype; Humans; Infant; Male; Retrospective Studies; Surveys and Questionnaires
PubMed: 31924237
DOI: 10.1186/s13023-019-1288-x