H‐like syndrome successfully treated with methotrexate

Alakad

et al. 2021

Dermatologic Therapy

H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss‐of‐function mutations in SLC29A3 which leads to abnormal proliferation and function of histiocytes. Herein, we discuss the considerable phenotypic heterogeneity detected in a consanguineous Egyptian family comprising of four affected siblings, two of which are monozygotic twin and the possible therapeutics. The phenotypic variability may be attributed to the role of histiocytes in the tissue response to injury. Such variable expressivity of H syndrome renders the diagnosis challenging and delays the management. The different treatment approaches used for this rare entity are reviewed.

Section: Managementmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

H syndrome: A review of treatment options and a hypothesis of phenotypic variability

Alakad

et al. 2021

Dermatologic Therapy

“…18 There were three causes for the administration of methotrexate in this patient: avoidance of adverse effects of long-term corticosteroid administration given the corticosteroid-responsive nature of the disease, role of methotrexate as a conventional disease-modifying anti-rheumatic drug (DMARD) with anti-inflammatory effects, and effectiveness of methotrexate in the treatment of patients with H syndrome. [19][20][21] In summary, diagnosis of H syndrome and associated constrictive pericarditis require a high degree of suspicion. Asymmetric constrictive pericarditis with dominant involvement of the pericardium over the right ventricle can occur in H syndrome and is characterized by five features:…”

Section: Discussionmentioning

confidence: 99%

Multimodality imaging of constrictive pericarditis in H syndrome

et al. 2021

This is the first report of constrictive pericarditis (CP) in a 16‐year‐old boy with H syndrome with pericardial involvement predominantly over the right ventricle with favorable response to anti‐inflammatory treatment. H syndrome, first reported in 2008, is a new auto‐inflammatory syndrome with multiorgan involvement due to mutation in the SLC29A3 gene. We described the echocardiographic characteristics of asymmetric pericardial involvement and presented the cardiac computed tomography angiographic and magnetic resonance imaging findings. We reviewed the echocardiographic signs of CP, introduced tricuspid E/A respiratory alternans as a novel echocardiographic sign of right ventricular dominant CP, and explained the underlying mechanism.

“…70 Other clinical features include hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, hypogonadism, hyperglycemia (diabetes mellitus), low height, hallux valgus (flexion contractures), and hematological abnormalities. [71][72][73] Skin biopsy of hyperpigmented lesions is often necessary. Histopathology will often show epidermal hyperplasia, increased number of melanocytes, a histiocytic infiltrate (CD68 + ), dermal fibrosis sparing adnexal structures, and thickened, fragmented elastin fibers with an absence of mucin.…”

Section: H Syndromementioning

confidence: 99%

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

Jones

Patel

Valikodath

et al. 2021

Pediatric Dermatology

Often dermatologists are the first providers to examine patients presenting with cutaneous manifestations of an occult cardiovascular disease. Significant morbidity and mortality exist between conditions with comorbid cardiovascular and cutaneous findings, and clinicians should be cognizant of such associations. From a cardiology standpoint, an initial workup will vary based on the reason for referral but frequently consists of upper and lower extremity blood pressure, a focused history of present illness (ie, associated symptoms of exertional chest pain, exertional syncope or syncope of unknown etiology, positional chest pain), family history (rule out cardiomyopathy, sudden cardiac death, etc), and a focused physical examination with an emphasis on cardiopulmonary systems. If any concerning findings are present, a complete echocardiogram will be performed to assess for pathology, which will guide the next steps. Given the care needed to treat these patients, this review aims to provide the tools needed to aid dermatologists in detecting underlying cardiovascular diseases by their associated cutaneous findings. | CONG ENITAL C ARDIOVA SCUL AR DISE A SE | RAS/MAPK pathway disordersRas is a small but important GTPase that induces the mitogen-activated protein kinase (MAPK) cascade, a critical mechanism for all cells during embryological development. Dysregulation of the Ras-MAPK pathway leads to the characteristic craniofacial phenotypes with underlying cardiac, cutaneous, musculoskeletal, and ocular abnormalities.Mutations in the Ras/MAPK pathway result in numerous syndromes, the most common of which include Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, neurofibromatosis type 1, and Noonan with multiple lentigines. These are discussed below. | Noonan syndromeNoonan syndrome (NS) is characterized by congenital heart defects and cutaneous manifestations, among other clinical findings. 1,2 The