Eponymous and acronymous diseases and signs
This chapter includes synopses of many relevant conditions; if a specific condition is not located here, please see index, as it may be elsewhere in the book. For eponymous medical signs, see also en.wikipedia.org/wiki/List_of_eponymous_medical_signs (accessed 30 September 2013).
Abrikossof tumour. Granular cell tumour.
Adamantiades syndrome. Behçet syndrome.
Adie’s (Holmes–Adie) pupil. A benign condition in which one pupil is dilated and reacts only very slowly to light or convergence.
Albers–Schonberg disease. Osteopetrosis.
Albright syndrome (McCune–Albright syndrome). Polyostotic fibrous dysplasia with skin pigmentation and an endocrine abnormality (usually precocious puberty in girls; Ch. 16).
Alstrom syndrome. Congenital nerve deafness and retinitis pigmentosa.
Asperger syndrome. A form of autism.
Avellis syndrome. Unilateral paralysis of the larynx and palate.
Beckwith–Wiedemann syndrome. Congenital gigantism, omphalocoele or umbilical hernia.
Beeson’s signs. Myalgia, facial oedema and fever in trichinosis.
Behçet syndrome. The triad of oral aphthous ulcers, genital ulceration and uveitis.
Berardinelli–Seip syndrome. An autosomal recessive form of generalized lipodystrophy.
Biemond syndrome. Congenital obesity and hypogonadism.
Blackfan–Diamond syndrome. Congenital red cell aplasia.
Block–Sulzberger disease (incontinentia pigmenti). Congenital hyperpigmented skin lesions, skeletal defects, learning disability and hypodontia.
Bourneville disease (epiloia, tuberous sclerosis). Autosomal dominant phakomatosis including fibromas at the nail bases (subungual fibromas), hamartomas in the brain, kidneys and heart, and nodules in the nasolabial folds (adenoma sebaceum) (Ch. 13).
Byar–Jurkiewicz syndrome. Gingival fibromatosis, hypertrichosis, giant fibroadenomas of the breast and kyphosis.
Cannon disease. Congenital white sponge naevus.
Carabelli cusp. Congenital additional palatal cusp on upper molars.
Carney syndrome. Autosomal dominant multisystem disorder of myxomas and lentigos.
Carpenter syndrome. Autosomal recessive acrocephalopolysyndactyly type II.
Castleman disease (angiolymphoid hyperplasia). Nodal lymphoproliferation that may progress to a malignant vascular tumour or lymphoma. Sometimes associated with paraneoplastic pemphigus.
Chediak–Higashi syndrome. Congenital immune defect in which neutrophils have large inclusions.
Clutton joints. Syphilitic neuropathic joints.
Cockayne syndrome. Premature ageing, dwarfism, deafness and neuropathy.
Coffin–Lowry syndrome. Congenital osteocartilaginous anomalies and learning disability.
Coffin–Siris syndrome. Congenital defective neutrophil function, susceptibility to infection and skin pigmentation.
Curry–Jones syndrome. Unilateral coronal synostosis and microphthalmia, plagiocephaly, craniofacial asymmetry, iris coloboma, broad thumbs, hand syndactyly, foot polydactyly, erosive skin lesions, gastrointestinal abnormalities and developmental delay.
Darier disease (Darier–White disease). Autosomal dominant skin disorder with follicular hyperkeratosis and sometimes white oral papules.
Destombes–Rosai–Dorfman syndrome. Rosai–Dorfman syndrome (see below).
DiGeorge syndrome. Congenital immunodeficiency with hypoplasia of thymus and parathyroids, characteristic facies with down-slanting palpebral fissures and ocular and nasal anomalies, and cardiac, thyroid and parathyroid defects due to a third and fourth branchial arch defect related to a chromosome 22 anomaly (CATCH 22 syndrome – see above) (Ch. 20).
Duhring disease. Dermatitis herpetiformis.
ECHO viruses. Enteric cytopathogenic human orphan viruses.
Ellis–van Creveld syndrome (chondroectodermal dysplasia). Congenital polydactyly, dwarfism, ectodermal dysplasia; hypodontia and hypoplastic teeth; multiple fraena.
Fabry disease (angiokeratoma corporis diffusum universale). X-linked recessive error of glycosphingolipid metabolism with skin angiokeratomas, hypertension, fever, renal disease and risk of myocardial infarction.
Fanconi anaemia. Rare autosomal recessive syndrome of congenital anaemia, congenital skeletal defects (e.g. abnormal radii), hyperpigmentation and pancytopenia; associated with abnormal susceptibility to oral or other head and neck carcinomas and leukaemia at an early age (Ch. 8).
Felty syndrome. Rheumatoid arthritis and neutropenia.
Fitzgerald–Gardner syndrome. Gardner syndrome (see below).
Fordyce disease (Fordyce spots). Congenital ectopic sebaceous glands seen mainly in the buccal mucosa or lips.
Freeman–Sheldon syndrome. Rare form of multiple congenital contracture syndrome (arthrogryposis).
Friedreich ataxia. Inherited progressive central nervous sytem damage causing features ranging from muscle weakness and speech problems to heart disease. Usually an autosomal recessive trait, leading to degeneration of many spinal cord tracts extending to the brainstem, and thus severe ataxia, loss of reflexes and secondary deformities. Degenerative heart disease with arrhythmias may be associated.
Froehlich syndrome. Congenital obesity, hypogonadism, and risk of learning disability and open bite.
Garré osteomyelitis. Proliferative periostitis.
Gasserian ganglion. Trigeminal ganglion.
Gilles de la Tourette syndrome. A familial early-onset syndrome, seen mainly in males, of chronic motor tics involving the head and neck especially and associated with compulsive vocal tics and sometimes swearing (coprolalia). Tongue-thrusting and lip-smacking are common and sometimes regarded as lewd (copropraxia). Many of those affected have obsessive–compulsive tendencies or attention-deficit hyperactivity, but intelligence is usually normal. Temporomandibular or other oral pain may result and self-mutilation, such as tongue- and lip-biting, may be associated. The dopamine receptor blocker haloperidol is usually effective; pimozide and/or clonidine may also be used. Drugs used to treat the syndrome may cause xerostomia or tardive dyskinesia. Interactions of these drugs with general anaesthetic agents, other central nervous system depressants and atropine means that dental treatment is best carried out under local analgesia.
Glossopharyngeal neuralgia. Severe pain in the posterior tongue, fauces, pharynx and sometimes beneath the angle of the mandible.
Goldenhar syndrome. Variant of conge/>