-
Ethiopian Journal of Health Sciences Mar 2023Harlequin syndrome is a rare disorder caused by autonomic nervous system dysfunction. It manifests as asymmetric facial flashing and sweating with contralateral...
BACKGROUND
Harlequin syndrome is a rare disorder caused by autonomic nervous system dysfunction. It manifests as asymmetric facial flashing and sweating with contralateral anhidrosis. It may be primary (idiopathic) with a benign course or can occur secondary to structural abnormalities or iatrogenic factors. To our knowledge, there has been no report of idiopathic Harlequin syndrome published from Ethiopia. We are reporting this case since it signifies the existence of idiopathic Harlequin syndrome in our setting and the need to properly diagnose this condition.
CASE PRESENTATION
We are reporting a 29-year-old female from Addis Ababa, Ethiopia, who presented with a complaint of left hemifacial hyperhidrosis of 8 years which worsen after routine household activities and exercise. Physical examination revealed left hemifacial hyperhidrosis with right-side anhidrosis. She was diagnosed with idiopathic Harlequin syndrome after an appropriate investigation revealed a nonremarkable finding. Symptomatic treatment showed no significant improvement and the patient was also counseled on the disease entity.
CONCLUSIONS
The patient described here signifies an idiopathic Harlequin syndrome in an Ethiopian woman. This case highlights the existence of idiopathic Harlequin syndrome within our setting and the need to properly diagnose this condition.
Topics: Female; Humans; Adult; Hypohidrosis; Ethiopia; Autonomic Nervous System Diseases; Hyperhidrosis
PubMed: 37484168
DOI: 10.4314/ejhs.v33i2.24 -
Cureus Jun 2023Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR...
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in impaired development of ectodermal-derived structures. The literature defines two types of ectodermal dysplasia, which are hypohidrotic and hidrotic. X-linked hypohidrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is the most common form and is a variant of ectodermal dysplasia characterized by a classical triad of hypo/adontia, hypohidrosis, and hypotrichosis; whereas, hidrotic type of ectodermal dysplasia, also known as Clouston syndrome, is characterized by a triad of onychodysplasia, hypotrichosis, and palmoplantar hyperkeratosis while sparing the sweat glands. Symptoms of XLHED can begin early in life between the ages of one month to 23 months. XLHED is more commonly seen in males due to the x-linked characteristics of the gene mutations. This disease can be diagnosed by physical exam alone, or in combination with molecular genetic testing. XLHED specifically has an estimated occurrence of one in every 20,000 newborns worldwide. Approximately 5,000 people in the United States have the disease. In this case report, we present an adult patient diagnosed with XLHED. Our objective is to emphasize the significance of early diagnosis, advocate for a multidisciplinary management approach, and shed light on the potential of recombinant protein and targeted gene therapy for further research. By raising awareness of this condition, we aim to improve patient outcomes not only in newborns but also in adults who have already been diagnosed with XLHED.
PubMed: 37456454
DOI: 10.7759/cureus.40383 -
JPMA. the Journal of the Pakistan... Jun 2023Basaloid follicular hamartoma is a rare benign malformation of hair follicles, characterised clinically as generalised or localised multiple brown papules mostly on...
Basaloid follicular hamartoma is a rare benign malformation of hair follicles, characterised clinically as generalised or localised multiple brown papules mostly on face, scalp and trunk. It may be congenital or acquired with or without any associated disease. Histologically it is composed of epithelial proliferation of basaloid cells with radial disposition enclosed in a fibrous stroma. It is of important consideration because it can be mistaken for basal cell carcinoma both clinically and histologically. Here we report the case of a 51-year-old female with acquired, generalised basaloid follicular hamartomas associated with alopecia, hypothyroidism and hypohidrosis which is an extremely rare disease.
Topics: Female; Humans; Middle Aged; Hypohidrosis; Skin Diseases; Alopecia; Hamartoma; Hypothyroidism; Skin Neoplasms
PubMed: 37427638
DOI: 10.47391/JPMA.6560 -
Cureus Jun 2023Horner syndrome (HS) is a rare complication of anterior cervical decompression and fusion procedures (ACDF). A 42-year-old female presented with sudden-onset weakness in...
Horner syndrome (HS) is a rare complication of anterior cervical decompression and fusion procedures (ACDF). A 42-year-old female presented with sudden-onset weakness in both upper and lower limbs secondary to trauma and was diagnosed with a spinal cord injury with tetraplegia. Her pre-operative findings were that her motor level of injury was C4 on the right and C5 on the left, and her sensory level of injury was C4 and C5, respectively, on the right and left sides. Her neurological injury level (NLI) was C4, and her ASIA Impairment Scale score was A. The cervical spine MRI suggested compression fractures of the C5 and C6 vertebral bodies with cord compression. She underwent a C5 and C6 central corpectomy and mesh cage fusion by an anterior longitudinal incision via right-sided exposure. She developed ptosis, miosis, and anhidrosis on the side immediately after surgery. During rehabilitation admission, her neurological findings were that her motor level of injury was C4 on the right and C5 on the left, and her sensory level of injury was C4 and C5, respectively, on the right and left sides. Her NLI was C4, and her ASIA Impairment Scale score was C. Even one year after surgery, the symptoms persisted. HS is a rare complication of anterior cervical spine fixation, and it is essential to have a thorough understanding of intraoperative and postoperative ACDF-related complications to avoid them whenever possible and manage them successfully and safely when they occur.
PubMed: 37425570
DOI: 10.7759/cureus.40134 -
The Iowa Orthopaedic Journal 2023Hereditary sensory and autonomic neuropathy type IV (HSAN) is a rare and debilitating disorder highlighted by congenital absence of pain and anhidrosis. Orthopedic...
Hereditary sensory and autonomic neuropathy type IV (HSAN) is a rare and debilitating disorder highlighted by congenital absence of pain and anhidrosis. Orthopedic sequelae include physeal fractures, Charcot joint development, excessive joint laxity, soft tissue infections and recurrent painless dislocations, all of which often present in a delayed fashion. While there is no accepted guideline on management of these patients, several case studies have highlighted the importance of early diagnosis and cautioned against surgical intervention in these patients due to their inability to perceive pain and comply with post-operative restriction. The purpose of this case report is to present the clinical course of a patient with HSAN IV and the unique orthopedic challenges it presented. While some of her orthopedic injuries healed appropriately following treatment, others have gone on to have devastating complications and progressive joint destruction. Level of Evidence: IV.
Topics: Humans; Female; Child; Orthopedics; Disease Progression; Fractures, Bone; Hereditary Sensory and Autonomic Neuropathies; Joint Dislocations; Pain
PubMed: 37383879
DOI: No ID Found -
Genes Jun 2023Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the gene that encodes the tumor...
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis. Mutation analysis of the gene detected a de novo missense mutation in exon 14 (c.1799G>T; p.Gly600Val). We discuss the phenotype-genotype correlation by presenting the clinical features of AEC in the patient, and the effect of the detected mutation in p63 structure and function using protein structural modeling, in view of similar cases in the literature. We performed a molecular modeling study in order to link the effect on the protein structure level of the missense mutation G600V. We noted that the introduction of the bulkier Valine residue in place of the slim Glycine residue caused a significantly altered 3D conformational arrangement of that protein region, pushing away the adjacent antiparallel α helix. We propose that the introduced locally altered structure of the G600V mutant p63 has a significant functional effect on specific protein-protein interactions, thus affecting the clinical phenotype.
Topics: Humans; Cleft Lip; Cleft Palate; Transcription Factors; Ectodermal Dysplasia; Tumor Suppressor Proteins; Genetic Association Studies
PubMed: 37372427
DOI: 10.3390/genes14061246 -
Cureus May 2023Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include...
Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include the outermost layer of the primary germ layers, which give rise to various body parts such as the ears, eyes, lips, and mucous membranes of the nose and mouth. Due to the impact on these structures, hypohidrotic ectodermal dysplasia can manifest differently in various age groups. However, the three primary characteristics typically associated with this condition are hypotrichosis, hypohidrosis, and hypodontia or anodontia. Here, we present a case of a male infant, aged 2 months, who was brought to our attention due to symptoms of unexplained fever and irritability. The child's family history was noteworthy, as an older sibling had distinctive features of ectodermal dysplasia. This information led us to consider the possibility of this diagnosis. This case report aims to highlight the distinctive features of such cases that facilitate the identification of this condition and its related complications. By sharing this case, we intend to raise awareness and encourage timely detection, diagnosis, and proper treatment of patients with this condition.
PubMed: 37362526
DOI: 10.7759/cureus.39489 -
Asian Journal of Surgery Nov 2023
Topics: Humans; Pain Insensitivity, Congenital; Femoral Fractures; Hereditary Sensory and Autonomic Neuropathies
PubMed: 37344313
DOI: 10.1016/j.asjsur.2023.06.043