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BMJ Case Reports Oct 2023
Topics: Humans; Child; Autonomic Nervous System Diseases; Hypohidrosis; Flushing
PubMed: 37827712
DOI: 10.1136/bcr-2023-257719 -
The Journal of Dermatology Jan 2024
Topics: Humans; Hypohidrosis; SARS-CoV-2; COVID-19; Vaccination
PubMed: 37679995
DOI: 10.1111/1346-8138.16946 -
Acta Neurologica Taiwanica Sep 2023Ross syndrome is a rare disorder of unknown etiology, characterized by the triad of segmental anhidrosis, tonic pupil, and areflexia/hyporeflexia. Ross syndrome is...
Ross syndrome is a rare disorder of unknown etiology, characterized by the triad of segmental anhidrosis, tonic pupil, and areflexia/hyporeflexia. Ross syndrome is thought to be a limited and selective ganglioneuropathy. Its etiology has not been fully elucidated. Autonomic findings may also accompany. We wanted to present our 25-year-old patient who was diagnosed with Ross syndrome and presented with complaints of inability to sweat, heat intolerance, headache, diarrhea and chronic cough. Keyword: cough, tonic pupil, anhidrosis, compensatory.
Topics: Humans; Adult; Tonic Pupil; Hypohidrosis; Cough; Pupil Disorders; Adie Syndrome; Reflex, Abnormal
PubMed: 37674425
DOI: No ID Found -
The Journal of Dermatology Jan 2024
Topics: Humans; Hypohidrosis; SARS-CoV-2; COVID-19; Vaccination
PubMed: 37665142
DOI: 10.1111/1346-8138.16947 -
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 -
Clinical, Cosmetic and Investigational... 2023Ectodermal dysplasia (ED) is an inherited disorder that affects the ectoderm of a developing embryo and impacts structures that originate from it. It typically presents...
Ectodermal dysplasia (ED) is an inherited disorder that affects the ectoderm of a developing embryo and impacts structures that originate from it. It typically presents as a triad of missing teeth (anodontia/hypodontia), sparse hair (atrichosis/hypotrichosis), and lack of sweat glands (hypohidrosis), often accompanied by nail dystrophy and palmoplantar hyperkeratosis. There are two main types of this condition: X-linked anhidrotic or hypohidrotic and hidrotic (autosomal type). The oral manifestation of ED may include anodontia or hypodontia, with or without cleft lip and palate. Tooth loss leads to a decrease in the height of the alveolar ridges, resulting in a reduction of the vertical dimension of the lower face, disappearance of the vermilion border, and prominent lips. As a result, the affected person's face may resemble that of an elderly individual. The current case report aims to illustrate the prosthodontic rehabilitation of 16-year-old male patient with ectodermal dysplasia and complete anodontia, visiting Dentistry Teaching Hospital, Kabul, Afghanistan. Fortunately, this patient was acceptably managed with the collaboration of several disciplines.
PubMed: 37576744
DOI: 10.2147/CCIDE.S419939 -
Journal of Cardiothoracic and Vascular... Nov 2023
Topics: Humans; Extracorporeal Membrane Oxygenation; Autonomic Nervous System Diseases; Hypohidrosis; Flushing
PubMed: 37573215
DOI: 10.1053/j.jvca.2023.07.012 -
Skin Health and Disease Aug 2023Acquired idiopathic generalised anhidrosis (AIGA) is a rare disorder that is characterised by sudden onset generalised absence of sweating without any dermatological,...
Acquired idiopathic generalised anhidrosis (AIGA) is a rare disorder that is characterised by sudden onset generalised absence of sweating without any dermatological, neurological or sweat gland abnormalities. AIGA predominately affects young males, mostly involving patients of Asian descent. There have been approximately 100 reported cases worldwide, most of which were reported in Japan. In Singapore, it is rarely seen with one case series on 15 cases of AIGA reported in a 2014 study. Here, we present a case of AIGA who responded well to conservative management with sweating activity.
PubMed: 37538324
DOI: 10.1002/ski2.242 -
JID Innovations : Skin Science From... Jul 2023Sweat maintains systemic homeostasis in humans. Although sweating disorders may cause multifaceted health problems, therapeutic options for sweat disorders have not yet...
Sweat maintains systemic homeostasis in humans. Although sweating disorders may cause multifaceted health problems, therapeutic options for sweat disorders have not yet been established. To gain new insight into the mechanism underlying the regulation of perspiration, we compared eccrine sweat gland transcriptomes from hidrotic and anhidrotic lesions from patients with anhidrosis and found out that olfactory receptors were expressed differentially in anhidrotic and hidrotic eccrine sweat glands. We then confirmed OR51A7 and OR51E2 expression in human eccrine sweat glands by in situ hybridization and immunohistochemistry. An alkaline phosphatase-TGFα shedding assay revealed that β-ionone activates G-proteins through OR51A7 or OR51E2. The effect of topically applied β-ionone on sweating was examined with the quantitative sudomotor axon reflex test, which showed that responses to β-ionone differed between sexes. Topical β-ionone attenuated female sweating and augmented male sweating. Taken together, this study suggests that olfactory receptors expressed in eccrine sweat glands may regulate sweating in response to odorous ligands on the basis of sex. These unexpected results indicate that olfactory receptors may modulate sweating and that olfactory receptor modulators may contribute to the management of sweat disorders.
PubMed: 37533582
DOI: 10.1016/j.xjidi.2023.100196 -
Advances in Experimental Medicine and... 2023Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal structures, such as...
INTRODUCTION
Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal structures, such as hair, nails, teeth, and sweat glands. We report here the clinical and molecular genetic analysis of five Greek families with different types of ectodermal dysplasia (ED).
SUBJECTS
The study involved 15 individuals from 5 Greek families that included 8 ED patients, 5 carriers of recessive X-linked or autosomal ED, and 2 healthy relatives. After genetic counseling, the parents signed an informed consent form before subsequent genetic testing.
METHODS
Genomic DNA was isolated from white blood cells of all studied individuals. The search for mutations was realized in patients' DNA samples using next-generation sequencing (NGS) gene panel, whole exome sequencing (WES), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA) technique.
RESULTS
The clinical diagnosis of common X-linked recessive hypohidrotic ectodermal dysplasia (HED) was suspected in five male patients with partial anodontia of baby and permanent teeth, hypohidrosis, and thin hair from three families. All HED patients were hemizygous for deletions in the EDA1 gene (Xq13.1): three related patients had a 20 bp deletion, one had a 19 bp deletion, and one had a 180 bp deletion. A female patient had the rare autosomal dominant syndrome of ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) caused by heterozygous missense mutation in the TP63 gene (3q28) that appeared de novo. Two siblings with hypotrichosis and hypodontia, a female and a male, had two pathogenic mutations in compound heterozygosity in the TSPEAR gene (21q22.3); therefore they presented with ectodermal dysplasia type 14 (ECTD14).
CONCLUSION
Clinical and molecular genetic analysis may set an accurate diagnosis of different types of ED. In the reported families, genetic diagnosis and genetic counselling assisted the parents to view their children's condition realistically and to cooperate with the specialists who will contribute to the best possible treatment for their children.
Topics: Child; Infant; Humans; Male; Female; Cleft Lip; Cleft Palate; Ectodermal Dysplasia; Mutation; Molecular Biology; Pedigree
PubMed: 37525042
DOI: 10.1007/978-3-031-31978-5_15