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Diseases of the Hair
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Rodney Sinclair, Wei-Liang Koh
Clinical presentation: For congenital localized hypertrichosis, this can be an isolated finding with a discrete circumscribed patch of increased terminal hairs, or associated with a congenital melanocytic nevus, Becker’s nevus, or underlying spinal dysraphism (faun tail sign at lumbosacral region). For congenital generalized hypertrichosis, patients rarely can present with increased body hair from birth, either lanugo hair (congenital hypertrichosis lanuginosa) or terminal hair (congenital hypertrichosis terminalis). This can be an isolated finding or associated with other congenital syndromes (e.g., Hurler syndrome, Cornelia de Lange syndrome). For acquired localized hyper-trichosis, this can be a feature in porphyria cutanea tarda. This can also occur in pretibial myxedema plaques, usually associated with Graves’s disease. Topical medications, for example, minoxidil, bimatoprost, and potent topical steroids, can induce hair growth. Repetitive rubbing/scratching and application of plaster cast can also result in localized hypertrichosis. For acquired generalized hypertrichosis, this condition can be associated with underlying malignancies (“malignant down,” reported rarely in gastrointestinal, lung, breast cancers), hypothyroidism, eating disorders (e.g., anorexia nervosa, bulimia), dermatomyositis, dystrophic epidermolysis bullosa, and certain drugs (e.g., minoxidil, phenytoin, cyclosporine).
Self-injurious behaviour and deliberate self-harm
Published in Tim Riding, Caron Swann, Bob Swann, Colin Dale, The Handbook of Forensic Learning Disabilities, 2021
Brachmann (or Cornelia) de Lange syndrome is a rare condition that affects approximately 1 in 50 000 births. Associated features include moderate or severe learning disabilities, facial and limb anomalies, poor language development, overactivity and stereotypic movements. As affected children grow older they may show explosive outbursts of self-injurious behaviour in the form of self-hitting, biting and chewing.
Section 5
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
5.2 Mental retardation is found in all the following:Trisomy 21Morquio syndromeHomocystinuriaEhlers-Danlos syndromeCornelia de Lange syndrome
Emerging strategies to target the dysfunctional cohesin complex in cancer
Published in Expert Opinion on Therapeutic Targets, 2019
Konstantinos Mintzas, Michael Heuser
A series of developmental disorders, termed cohesinopathies, have been attributed to mutations in cohesin genes or their regulators. The Cornelia de Lange syndrome is a clinically heterogeneous disease typically associated with microcephaly, short stature, hypertrichosis, bone malformations and mental retardation with mutations described in the regulatory protein NIPBL and core proteins SMC1A, SMC3, RAD21 and STAG1 [23–27]. The pathology of the disease has been suggested to be linked to aberrant gene regulation attributed to dysfunctional cohesin. Roberts Syndrome, characterized by limb and facial abnormalities, and Warsaw breakage syndrome, characterized by intellectual disability, impaired growth, and heart malformations, are two other cohesinopathies attributed to mutations on the regulatory proteins ESCO2 and DDX11, respectively[28].
Ophthalmologic findings in the Cornelia de Lange syndrome
Published in Ophthalmic Genetics, 2019
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including characteristic craniofacial features (Figure 1), hearing loss, distal limb anomalies (Figure 2), growth and developmental delays, gastroesophageal reflux disease, and other features (1,2). The syndrome has been found to be associated with mutations in NIPBL, SMC1A, HDAC8, SMC3, or RAD21 (3). A clinical review of 181 affected individuals demonstrated that ocular anomalies were present in 57% (4). Common ocular findings reported in the literature include long eyelashes, synophrys, hirsutism of the eyebrows, peripapillary pigment ring, and myopia. Less common findings, seen in >5% of patients, include hyperopia, ptosis, blepharitis, short palpebral fissure length, down-slanting palpebral fissures, mild microcornea, strabismus, nystagmus, and optic nerve abnormalities. In this review, we summarize the incidence, impact on visual function, management, and genetic correlates (when available) for ophthalmologic findings in CdLS.
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
Published in Ophthalmic Genetics, 2018
Marianna E. Ivanova, Vladimir N. Trubilin, Dmitry S. Atarshchikov, Andrey M. Demchinsky, Vladimir V. Strelnikov, Alexander S. Tanas, Olga M. Orlova, Anton S. Machalov, Kira V. Overchenko, Tatiana V. Markova, Daria M. Golenkova, Kirill I. Anoshkin, Ilya V. Volodin, Dmitry V. Zaletaev, Andrey A. Pulin, Irina I. Nadelyaeva, Alexey I. Kalinkin, Debmalya Barh
In the patient 14, a variation (p.G1144D) in the NIPBL gene was detected. The NIPBL gene is associated with Cornelia de Lange syndrome 1 (MedGen: CN029798 OMIM: 122470). We annotated the identified variant p.G1144D as UV3 (likely pathogenic) using various in silico approaches that include PolyPhen2, PROVEAN, SIFT, Project HOPE, and MutPred2 (Table-1, Supplement Tables S7 and S8).