China
Africa
Explore chapters and articles related to this topic
Photoexacerbated Dermatoses
Published in Henry W. Lim, Nicholas A. Soter, Clinical Photomedicine, 2018
Rothmund-Thomson syndrome is a syndrome of autosomal recessive inheritance that affects girls more often than boys (43). In his original description, Rothmund, an ophthalmologist, described a reticulate erythematous eruption progressing to hyperpigmentation with onset at 3–6 months of age, associated with juvenile cataracts (43). Similar cases, but without cataracts, were later described by Thomson under the name poikiloderma congenitale (44). Finally, Taylor concluded that the entities described by Rothmund and Thomson were the same (45). A review of 107 cases of the syndrome (46) showed that 33% of patients were photosensitive and 100% developed poikiloderma. Other features, in descending order of frequency included short stature (62%), absent or sparse scalp, eyelash, and eyebrow hair (60%), juvenile cataracts (47%), bony defects (42%), small hands (36%), hypogonadism (29%), defective dentition (27%), nail dystrophy (22%), and keratotic lesions (19%). The degree of photosensitivity ranged from immediate erythema to bulla formation. One patient was phototested and showed an increased sensitivity to UVA and a normal response to UVB.
Epidemiology and Risk Factors of Osteosarcoma
Published in Cancer Investigation, 2020
Leissan R. Sadykova, Atara I. Ntekim, Musalwa Muyangwa-Semenova, Catrin S. Rutland, Jennie N. Jeyapalan, Nataliya Blatt, Albert A Rizvanov
The etiology of osteosarcoma is complex and not well understood. Studies have identified several genetic risk markers, including hereditary retinoblastoma (Rb) (67,68), Rothmund–Thomson syndrome (70,71), and Li Fraumeni syndrome (72). Mutations in the Rb gene have a strong association with predispositions to osteosarcoma (73–75), where the loss of heterogeneity in the Rb gene could indicate unfavorable disease outcome (76). Additionally, altered p53 loci was reported in 10–39% of osteosarcoma cases (77–80). Combined mutations in Rb and p53 show synergistic tumorigenic properties (79,81,82).
Targeting the DNA damage response in pediatric malignancies
Published in Expert Review of Anticancer Therapy, 2022
Jenna M Gedminas, Theodore W Laetsch
RecQL4 is a helicase, which plays an important role in the activation of the ATM pathway [22]. Defects in the RecQ and RecQ-like family of helicases are the causes of the chromosome instability disorders Werner syndrome, Bloom syndrome, and Rothmund-Thompson syndrome which are characterized by defective homologous recombination and a predisposition to malignancy [18].
Hypohidrotic ectodermal dysplasia: a case report
Published in Orbit, 2020
HED is the most common type of ED, characterized by a triad of symptoms, comprising sparse hair growth (hypotrichosis), complete or partial absence of teeth (anodontia or hypodontia), and inability to sweat or diminished sweating (anhidrosis or hypohidrosis).6 HED was first reported in 1929 by Weech and is therefore known as Weech syndrome.1 Mutations in the EDA, EDAR, and DARADD genes cause HED.3,5 These genes encode a transmembrane protein, ectodysplasin-A of the tumor necrosis factor superfamily, which forms a part of the signaling pathway that is critical for the interaction between the ectoderm and mesoderm during embryogenesis.2,5 Mutations in these genes prevent normal interactions between the ectoderm and the mesoderm and normal development of the skin, hair, sweat glands, and teeth. HED is most frequently inherited in an X-linked manner, followed by an autosomal dominant or recessive pattern.2 Its prevalence is approximately 1 in every 100,000 live births.4 The disease typically manifests in men while women act as carriers. Most types of ED share common features. Ocular manifestations may vary with the type of ED. ED influences the development or function of the ocular tissues originating from the ectodermal layer; however, not all ocular tissues derived from the ectoderm are affected in all cases. The reported ocular manifestations of HED are madarosis, deficient meibomian glands, blepharitis, hypoplasia of the lacrimal glands, dry eye, entropion, ectropion, ankyloblepharon, eyelid cysts, blepharophimosis, periorbital hyperpigmentation, agenesis of the lacrimal puncta, hypoplastic NLD, dacryocystitis, strabismus, conjunctivitis, glaucoma, limbal stem cell deficiency, corneal opacity, corneal pannus, decreased corneal sensations, microphthalmia, cataract, and telecanthus.3–10 Primary acquired NLD obstruction may develop in ED because of a congenital malformation in NLD. Secondary acquired NLD obstruction in HED may develop from atrophic rhinitis, which is a common condition associated with HED.1 Similar to the ectrodactyly–ED–cleft lip/palate (EEC) syndrome, HED could be etiologically associated with syndromic congenital NLD obstruction in the present case.11,12 Dry eye and NLD obstruction may co-exist in patients with HED; therefore, DCT is a viable option in these patients. Differential diagnoses of HED include focal dermal hypoplasia, Hutchinson–Gilford progeria syndrome, Rothmund–Thomson syndrome, ichthyosis follicularis, Bowen–Armstrong syndrome, CHAND syndrome, nail dysplasia syndrome, and Johanson–Blizzard syndrome.1 There are no specific treatments for patients with HED. Genetic counseling is the central component of the preventive measures against the condition. Owing to the lack of well-defined eyebrows and eyelashes, ocular foreign bodies are common in these patients. Protective glasses with side covers are essentially helpful in preserving ocular moisture and protecting the eyes from foreign bodies. Ophthalmic management predominantly focuses on symptomatic relief of dry eye and prevention of keratopathy. Early recognition of ED may lead to more effective treatment interventions by a pediatrician, dentist, ophthalmologist, and dermatologist.5