Hyperreactive mydriasis to atropine is a feature of Down syndrome (Harris and Goodman, 1968). (Paskind (1921) concluded that atropine had little effect in African American subjects, whereas in white subjects it produced an average slowing of 10 beats per minute.)
Clinical Features Inoue et al. (1998) reported a patient with a systemic lupus erythematosus-like syndrome and chronic glomerulonephritis in whom no C1s protein was detectable by immunoblot.
Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al. (2011, 2011)).
They distinguished it also from the myopathic form of mtDNA depletion syndrome (see, e.g., MTDPS2, 609560). Genge et al. (1995) speculated that there may be an impairment of normal mitochondrial proliferation.
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.
Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Bullous drug reaction Other names Bullous drug eruption, [1] generalized bullous fixed drug eruption, multilocular bullous fixed drug eruption [2] : 554 Specialty Dermatology Bullous drug reaction most commonly refers to a drug reaction in the erythema multiforme group. [3] : 129 These are uncommon reactions to medications, with an incidence of 0.4 to 1.2 per million person-years for toxic epidermal necrolysis and 1.2 to 6.0 per million person-years for Stevens–Johnson syndrome . [3] : 129 The primary skin lesions are large erythemas (faintly discernible even after confluence), most often irregularly distributed and of a characteristic purplish-livid color, at times with flaccid blisters. [2] : 554 See also [ edit ] Skin lesion List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.
X-type histiocytosis Specialty Dermatology X-type histiocytoses are a clinically well-defined group of cutaneous syndromes characterized by infiltrates of Langerhans cells , as opposed to Non-X histiocytosis in which the infiltrates contain monocytes / macrophages . [1] : 720 Conditions included in this group are: [1] : 720–4 Congenital self-healing reticulohistiocytosis Langerhans cell histiocytosis See also [ edit ] Non-X histiocytosis Histiocytosis References [ edit ] ^ a b James, William D.; Berger, Timothy G.; et al. (2006).
Onset of hearing loss typically occurred in the first decade of life and involved the high frequencies; there was significant subsequent progression of hearing loss over all frequencies, with an annual threshold deterioration of 1.2 to 1.6 dB per year. No syndromic features or autoimmune phenotypes were found on clinical examination.
Clinical description Cutaneous T-cell lymphomas can be subdivided into forms with a good prognosis (Mycosis fungoides and CD30+ cutaneous T-cell lymphoma), forms with a poor prognosis (Sezary syndrome and peripheral T-cell lymphoma) and forms with a variable prognosis (pleomorphic small/medium-sized T-cell lymphoma, subcutaneous panniculitis-like T-cell lymphoma, cutaneous T/NK cell lymphomas (referred to as nasal-type lesions), epidermotropic CD8+ T-cell lymphomas and the TCRgamma-delta phenotype).
Cutaneous lymphoma Specialty Dermatology/oncology Cutaneous lymphoma , also known as lymphoma cutis , is when lymphoma involves the skin. [1] It is characterized by a proliferation of lymphoid tissue. [2] There are two main classes of lymphomas that affect the skin: Cutaneous T-cell lymphoma Cutaneous B-cell lymphoma References [ edit ] ^ Paller, Amy S.; Mancini, Anthony J. (2015). Hurwitz Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence (5 ed.). Elsevier Health Sciences. p. 240. ISBN 978-0-323-24476-3 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN 978-1-4160-2999-1 .
. ^ Matsumoto T, Kuwabara N, Abe H, Fukuda Y, Suyama M, Fujii D, Kojima K, Futagawa S (1992), "Zahn infarct of the liver resulting from occlusive phlebitis in portal vein radicles", American Journal of Gastroenterology , 87 (3): 365–368, PMID 1539574 Reichelt HG (1985), "Partial Budd-Chiari syndrome with Zahn infarct of the liver in venous transmitted tumor thrombosis of a uterine cancer", Röntgen-Blätter (in German), 38 (11): 345–347, PMID 4081553 v t e Ischaemia and infarction Ischemia Location Brain ischemia Heart Large intestine Small intestine Infarction Types Anemic Hemorrhagic Location Heart Brain Spleen Limb Gangrene This article related to pathology is a stub .
AIDS-related complex Kaposi's sarcoma is a part of AIDS-related complex Specialty Infectious disease AIDS-related complex ( ARC ) was introduced after discovery of the HIV ( human immunodeficiency virus ) when the medical community became aware of the inherent difficulties associated with treating patients suffering from an advanced case of HIV which gave rise to the term acquired immune deficiency syndrome (AIDS). The necessity for doctors to quickly and accurately understand the special needs of unknown patients suffering from AIDS in an emergency department situation was addressed with the creation of the term ARC. [ citation needed ] ARC is a " prodromal phase of infection with the human immunodeficiency virus (HIV)" that includes: low grade fever , unexplained weight loss, diarrhea , opportunistic infections and generalized lymphadenopathy .
Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.
Mapping While attempting to refine the localization of the gene responsible for DFNB4 (600791) on 7q31, Greinwald et al. (1998) found a large family (F18) in Madras, India, with autosomal recessive nonsyndromic hearing loss, which by homozygosity mapping and linkage analysis appeared to map to 7q31 also, but to lie outside the region to which both DFNB4 and Pendred syndrome (274600) have been mapped. Because of the identical location and phenotype, this locus and that identified as DFNB14 (603678) may be the same.
ISBN 1-4160-2999-0 . v t e Skin cancer of nevi and melanomas Melanoma Mucosal melanoma Superficial spreading melanoma Nodular melanoma lentigo Lentigo maligna / Lentigo maligna melanoma Acral lentiginous melanoma Amelanotic melanoma Desmoplastic melanoma Melanoma with features of a Spitz nevus Melanoma with small nevus-like cells Polypoid melanoma Nevoid melanoma Melanocytic tumors of uncertain malignant potential Nevus / melanocytic nevus Nevus of Ito / Nevus of Ota Spitz nevus Pigmented spindle cell nevus Halo nevus Pseudomelanoma Blue nevus of Jadassohn–Tièche Cellular Epithelioid Deep penetrating Amelanotic Malignant Congenital melanocytic nevus ( Giant Medium-sized Small-sized ) Balloon cell nevus Dysplastic nevus / Dysplastic nevus syndrome Acral nevus Becker's nevus Benign melanocytic nevus Nevus spilus This dermatology article is a stub .
If the glaucoma persists even after iridectomy then it is called plateau iris syndrome and subsequently managed either medically (miotics) or surgically (laser peripheral iridoplasty).
Other fingerprint anomalies include variation in ridge count (125580), arch pattern (125570), patternless ridges (125540), dermal ridges-off-the-end (125550), Nelson syndrome and dermal ridges (125530), and plain radial loop on right index finger (312200).