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Journal of Neurology Oct 2021Ross syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and segmental anhidrosis. We sought to characterize the clinical presentation, associated...
BACKGROUND
Ross syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and segmental anhidrosis. We sought to characterize the clinical presentation, associated autoimmune disorders, and autonomic profile in patients with Ross syndrome to further elucidate its pathophysiology.
METHODS
We performed a retrospective chart review of all patients who underwent a thermoregulatory sweat test (TST) between 1998 and 2020 and had confirmation of the diagnosis of Ross syndrome by an autonomic disorders specialist. Standardized autonomic reflex testing was reviewed when available.
RESULTS
Twenty-six patients with Ross syndrome were identified. The most common initial reported manifestation was an abnormal segmental sweating response in 16 patients (described as hyperhidrosis in 12 patients and anhidrosis in 4 patients) while a tonic pupil was the initial manifestation in 10 patients. Other commonly reported symptoms included fatigue, chronic cough, and increased urinary frequency. An associated autoimmune disorder was identified in one patient. Positive autoantibodies were found in a minority of patients often with unclear clinical significance. Distributions of anhidrosis encountered were segmental (n = 15), widespread (n = 7), and global (n = 4). Well-circumscribed small areas of preserved sweating within areas of anhidrosis were observed in the majority of patients (88.5%). Anhidrosis progressed slowly over time and sudomotor dysfunction was predominantly (post)ganglionic. Cardiovagal and adrenergic functions were preserved in most patients.
CONCLUSIONS
The pattern of autonomic dysfunction in Ross syndrome is suggestive of a limited autonomic ganglioneuropathy. Sudomotor impairment is prominent and should be the focus of symptomatic management; however, clinicians should be aware of symptoms beyond the classic triad.
Topics: Autonomic Nervous System Diseases; Humans; Hypohidrosis; Retrospective Studies; Syndrome; Tonic Pupil
PubMed: 33813643
DOI: 10.1007/s00415-021-10531-8 -
Medical Journal, Armed Forces India Dec 2015
PubMed: 26843773
DOI: 10.1016/j.mjafi.2014.05.006 -
Clinical Case Reports May 2022Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or...
Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or anhidrosis and paleness of the opposite side. It is, usually, idiopathic. Rarely, it may be associated with compressive organic processes, iatrogenic causes, and general diseases. It is a real therapeutic challenge.
PubMed: 35592047
DOI: 10.1002/ccr3.5833 -
Anais Brasileiros de Dermatologia 2016Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of...
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.
Topics: Cholinergic Fibers; Humans; Hyperhidrosis; Hypohidrosis; Male; Middle Aged; Nerve Degeneration; Peripheral Nervous System Diseases; Primary Dysautonomias; Syndrome
PubMed: 26982793
DOI: 10.1590/abd1806-4841.20163918 -
Cureus Sep 2023Horner's syndrome (HS) is a rare complication of thyroidectomy caused by damage to the oculosympathetic nerves. This article reports the case of a 29-year-old woman...
Horner's syndrome (HS) is a rare complication of thyroidectomy caused by damage to the oculosympathetic nerves. This article reports the case of a 29-year-old woman referred to the clinic with a newly diagnosed papillary thyroid carcinoma (PTC). Ultrasound studies were concerning for multiple thyroid nodules and an enlarged lymph node, confirmed by a computed tomography (CT) scan. Cytology results of fine needle aspiration (FNA) diagnostic for PTC showed tumors in the thyroid tissue and lymph node. The patient underwent a thyroidectomy and woke up with right-sided ptosis and miosis. Clinical follow-up revealed subjective ipsilateral anhidrosis. She also developed a low parathyroid hormone level and dysphonia, albeit they resolved after months. The patient still exhibits HS eight months after surgery. This paper reviews the literature and attempts to establish the most probable causal factor while providing implications for surgical teams to minimize HS occurrence in future thyroid surgeries.
PubMed: 37876407
DOI: 10.7759/cureus.45825 -
International Journal of Clinical... Sep 2012Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair,... (Review)
Review
Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.
PubMed: 25206167
DOI: 10.5005/jp-journals-10005-1165 -
Archives of Plastic Surgery Jan 2016
PubMed: 26848454
DOI: 10.5999/aps.2016.43.1.95 -
Frontiers in Physiology 2021Ectodysplasin A (EDA) is a member of the tumor necrosis factor (TNF) family of ligands that was initially reported to induce the formation of various ectodermal... (Review)
Review
Ectodysplasin A (EDA) is a member of the tumor necrosis factor (TNF) family of ligands that was initially reported to induce the formation of various ectodermal derivatives during normal prenatal development. EDA exerts its biological activity as two splice variants, namely, EDA-A1 and EDA-A2. The former binds to the EDA receptor (EDAR), resulting in the recruitment of the intracellular EDAR-associated death domain (EDARADD) adapter protein and the activation of the NF-κB signaling pathway, while the latter binds to a different receptor, EDA2R, also known as X-linked ectodermal dysplasia receptor (XEDAR). Inactivation mutation of the EDA gene or the genes coding for its receptors can result in hypohidrosis ectodermal dysplasia (HED), a condition that is characterized by oligotrichosis, edentulosis or oligodontia, and oligohidrosis or anhidrosis. Recently, as a new liver factor, EDA is gradually known and endowed with some new functions. EDA levels were observed to be upregulated in several metabolic diseases, such as non-alcoholic fatty liver disease (NAFLD), obesity, and insulin resistance. In addition, EDA and its receptors have been implicated in tumor pathogenesis through the regulation of tumor cell proliferation, apoptosis, differentiation, and migration. Here, we first review the role of EDA and its two-receptor system in various signaling pathways and then discuss the physiological and pathological roles of EDA and its receptors.
PubMed: 34938205
DOI: 10.3389/fphys.2021.788411 -
Acta Dermato-venereologica Aug 2022
Topics: Alopecia; Humans; Hypohidrosis; Nail Diseases; Nails, Malformed; Propylthiouracil
PubMed: 35971830
DOI: 10.2340/actadv.v102.2690 -
Neuroscience and Biobehavioral Reviews Apr 2018NGF is a well-studied neurotrophic factor, and TrkA is a receptor tyrosine kinase for NGF. The NGF-TrkA system supports the survival and maintenance of NGF-dependent... (Review)
Review
NGF is a well-studied neurotrophic factor, and TrkA is a receptor tyrosine kinase for NGF. The NGF-TrkA system supports the survival and maintenance of NGF-dependent neurons during development. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA. Individuals with CIPA lack NGF-dependent neurons, including NGF-dependent primary afferents and sympathetic postganglionic neurons, in otherwise intact systems. Thus, the pathophysiology of CIPA can provide intriguing findings to elucidate the unique functions that NGF-dependent neurons serve in humans, which might be difficult to evaluate in animal studies. Preceding studies have shown that the NGF-TrkA system plays critical roles in pain, itching and inflammation. This review focuses on the clinical and neurobiological aspects of CIPA and explains that NGF-dependent neurons in the peripheral nervous system play pivotal roles in interoception and homeostasis of our body, as well as in the stress response. Furthermore, these NGF-dependent neurons are likely requisite for neurobiological processes of 'emotions and feelings' in our species.
Topics: Animals; Brain; Emotions; Humans; Hypohidrosis; Interoception; Nerve Growth Factor; Neurons; Pain Insensitivity, Congenital; Peripheral Nervous System; Receptor, trkA
PubMed: 29407522
DOI: 10.1016/j.neubiorev.2018.01.013