Eponyms and Syndromes - O to R

occipital horn syndrome

XLR form of cutis laxa

oculocerebral-hypopigmentation syndrome

Cross-McKusick-Breen syndrome

oculomandibulofacial syndrome

Francois syndrome, Hallermann-Streiff syndrome, mandibulo-oculofacial dyscephaly

Ofuji’s disease

 sterile annular pustules-face, trunk, extremities AKA eosinophilic folliculitis

Ogna, EBS of

Norwegian cases of EBS

Olmsted’s syndrome

massive, mutilating keratoderma with hyperkeratotic plaques & severe nail dystrophy with alopecia, follicular hyperkeratosis, oral leukokeratoses, psychomotor delay, short stature

Omenn’s syndrome

AR; combined T & B cell immunodeficiency with alopecia, diffuse erythema, FTT, hyperkeratosis & recurrent infections

Osler’s nodes

painful erythematous or hemorrhagic macules, papules or nodules on distal fingers; gonococcemia, hemolytic anemia, SLE, typhoid fever (see also Janeway lesion)

Osler’s sign

small painful erythematous swellings (Osler’s nodes) in skin of hands & feet; subacute bacterial endocarditis (10%), SLE

Osler’s toe

onychogryphosis AKA Hippocratic nail, ram’s horn nail

Osler-Weber-Rendu syndrome

AD, 9q33; punctate telangiectasias of ears, feet, hands, lips, tongue; epistaxis, GI & GU telangiectasias GI hemorrhage, recurrent epistaxis in childhood, pulmonary & hepatic AV fistulas, CNS aneurysms, AV malformations AKA hereditary hemorrhagic telangiectasia

osteogenesis imperfecta

see table at end of section

Ostertag syndrome

AD; hereditary systemic amyloid, hepatomegaly, hypertension, nephropathy

Ota, nevus of

unilateral, usually facial, slate-gray macules  AKA nevus fuscocaeruleus opththalmomaxillaris

pachydermoperiostosis

Touraine-Solente-Gole syndrome

pachyonychia congenita

Jadassohn-Lewandowsky syndrome

Pacinian corpuscles

receptors in deep dermis or subcutis especially in digits, associated with blood vessels, serving as rapidly adapting mechanoreceptors to vibrational stimuli

PACK syndrome

primary biliary cirrhosis, anti-centromere antibody, CREST (calcinosis cutis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia) and keratoconjunctivitis sicca

pagetoid reticulosis

Woringer-Kolopp disease

painful bruising syndrome

women; purpuric painful ecchymoses with emotional stress, without preceding trauma

Pallister-Killian syndrome

circumscribed hypopigmentation on cranium, sparse eyebrows & eyelashes, sparse scalp hair, severe MR, hearing loss, seizures, ptosis, high forehead, hypertelorism, facial defects

Papillon-LefÀvre syndrome

AR; palmoplantar keratoderma with transgrediens, keratotic plaques of elbows, knees, periodontitis, tooth loss, falx calcification

papular purpuric gloves & socks syndrome

Parvovirus B-19 in adults

paraneoplastic acrokeratosis

Bazex’s syndrome

parasitic melanoderma

vagabond’s disease

Parkes-Weber syndrome

Klippel-Tr¾naunay-Weber syndrome

Parrot’s lines

depressed linear scars radiating from anus, mouth, & nose like wheel spokes; congenital syphilis AKA rhagades

Parry-Romberg syndrome

facial hemiatrophy, hyperpigmentation & atrophy of dermis, subcutaneous fat, muscle & bone

Partingtons syndrome

FTT, hemiplegia, recurrent pneumonia, hyperpigmentation (generalized reticulate), seizures

Pasini

dominant dystrophic epidermolysis bullosa albopapuloid

Pastia’s lines

linear petechiae; Kawasaki disease, scarlet fever

Paterson’s syndrome, Paterson-Brown Kelly syndrome, Paterson-Kelly syndrome

Plummer-Vinson syndrome

peeling skin syndrome

AR; cycles of spontaneous desquamation of full thickness stratum corneum sheets, generalized hyperkeratosis, palmoplantar hyperkeratosis with pruritus, underlying erythroderma

PEP syndrome

POEMS syndrome

Peruvian wart

vascular papules & nodules developing in crops; Carrion’s d. AKA verruga peruana

Peutz-Jeghers syndrome

AD; lentigines (around mouth, eyes, lips, oral mucosa, hands, feet), GI polyps, GI malignancies (3%), cancer (breast, pancreas, reproductive organs), colic, intussusception, GI bleeding

Peyronie’s disease

induration of corpora cavernosa of penis, producing fibrous chordee

phenylketonuria

AR; hyperphenylalaninemia due to phenylalanine 4-monooxygenase deficiency; eczema, hypopigmentation of hair & skin, MR, seizures, tumors, mousy odor

PIBIDS

photosensitivity plus IBIDS (ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature)

piebaldism

AD; c-kit on 4q12, depigmented patches, white forelock

pigmented purpuric lichenoid dermatitis

Gougerot-Blum syndrome

Pinkus corpuscle

see Haarscheibe receptor

plasma cell balanitis (vulvitis)

Zoon’s balanitis (vulvitis)

PLEVA

Mucha-Habermann disease

Plummer-Vinson syndrome

angular chelitis, dysphagia, hypochromic anemia, koilonychia & painful tongue AKA Paterson’s syndrome, Paterson-Brown Kelly syndrome, Paterson-Kelly syndrome, sideropenic dysphagia, Vinson’s syndrome

POEMS syndrome

polyneuropathy, organomegaly, endocrinopathy, M protein & skin changes AKA Crow-Fukase syndrome

Pohl-Pinkus marks

hair shaft constrictions, acquired trichodystrophy; antimitotic drugs, emotional stress, systemic disease

poikiloderma congenitale

Rothmund-Thompson syndrome

polycystic ovary syndrome

Stein-Leventhal syndrome

popliteal web syndrome

congenital popliteal webs, cleft palate, pits (lower lip), toenail dysplasia

porphyria cutanea tarda

AD, 1p34, uroporphyrinogen decarboxylase gene, & sporadic/acquired; delayed photosensitivity, facial hypertrichosis, scarring alopecia, milia, hypermelanosis

porphyria, acute intermittent

AD 11q24, porphobilinogen deaminase; no skin features, acute attacks with seizures, peripheral neuropathy, weakness, abdominal pain, tachycardia, hyponatremia secondary to ADH secretion

porphyria, erythropoietic

AR, 10q25.2-q26; uroporphyrinogen III cosynthetase; early; immediate photosensitivity with burning, edema, erosions  late; mutilating scarring in sun exposed areas, scarring alopecia, hypertrichosis, brown teeth, photophobia, hemolytic anemia, splenomegaly  AKA Gònther’s disease

porphyria, hepatoerythropoietic

AR, 1p34, uroporphyrinogen decarboxylase gene, homozygous form of familial PCT; onset infancy, very rare, severe photosensitivity, hemolytic anemia, splenomegaly, dark urine, hypertrichosis, hyperpigmentation, sclerodermoid change, mutilating scars

porphyria, variegate

AD 14q32, protoporphyrinogen oxidase; bullae, erosions, scarring, milia, hypertrichosis, acute attacks precipitated by drugs, infection fever, alcohol, pregnancy

porphyria; erythropoietic coproporphyria

Extremely rare, little is known; elevated PROTO & COPRO in red blood cells.

porphyria; erythropoietic protoporphyria

AD, 18pter-p11.2, ferrochelatase deficiency; onset 1-4 years old.  early; burning erythematous plaques in sun distribution. late; waxy thickened scarring with cholelithiasis, jaundice, anemia

porphyria; hereditary coproporphyria

AD, 9, coproporphyrinogen oxidase gene; onset young adults, delayed photosensitivity, acute attacks similar to PCT precipitating factors, usually less severe

postphlebitic syndrome

complications of deep venous thrombosis; chronic venous insufficiency, persistent edema, pain, purpura, increased cutaneous pigmentation, eczematoid dermatitis, pruritus, ulceration, & indurated cellulitis

Pott’s disease

scrotal cancer in chimney sweeps from polycyclic aromatic hydrocarbons

Preus syndrome

arched palate, cataracts, dolichocephaly, generalized hypopigmentation, growth retardation, hypochromic anemia, psychomotor retardation, small teeth,

primary (essential) lymphedema

Milroy’s disease

progeria

unknown inheritance; thin, atrophic skin, mottled hyperpigmentation, sparse hair, large cranium, micrognathia, osteoporosis, premature atherosclerosis, CHF, MI, short stature, short life span

progressive cardiomyopathic lentiginosis

Moynahan’s syndrome

progressive pigmented purpuric dermatosis

Schamberg’s disease

prolidase deficiency

AR; aminoacidopathy,deficiency of X-Pro dipeptidase, urinary excretion of imidodipeptides;  chronic skin lesions, impaired motor & cognitive development, frequent infections, bone abnormalities

proteus syndrome

AD, sporadic; AV malformations, capillary malformation, growth & mental retardation, linear epidermal nevi, intracranial tumors, large at birth, lipomas, lymphatic-venous malformations, macrocephaly, macrodactyly, pigmented penile macules, scoliosis, soft tissue & bony hypertrophy of extremities, subcutaneous masses AKA Bannayan syndrome

pseudo-Darier’s sign

urticarial wheal, induration, piloerection with stroking; congenital smooth muscle hamartoma

pseudo-Hutchinson’s sign

discoloration of nail matrix; subungual hematoma

pseudopelade of Brocq

end stage cicatricial alopecia & fibrosis from; favus, folliculitis (scarring), LE, lichen planus, sarcoidosis, scleroderma

pseudoxanthoma elasticum

AR; basophilic degeneration of elastic tissue; flexural yellow macules & papules forming plaques, lax inelastic redundant skin, angioid streaks (retina), arterial insufficiency of lower extremities, calcified arteries, coronary insufficiency, hypertension, mitral valve prolapse, GI hemorrhage  AKA nevus elasticus

purpura annularis telangiectoides

Majocchi’s disease

Quincke pulsation

flushing of nail beds synchronous with heartbeat; aortic regurgitation

Quinquaud’s disease

folliculitis decalvans

Rabson-Mendenhall syndrome

acanthosis nigricans, dental dysplasia, dystrophic nails, premature puberty

Raeder’s syndrome

Horner’s syndrome, plus frontal/temporal headache & lacrimal sweating

Ramsay-Hunt syndrome

herpes zoster of facial & auditory nerves, external ear with ipsilateral facial paralysis occasional deafness, tinnitus, vertigo  AKA geniculate neuralgia, herpes zoster auricularis, neuralgia facialis vera, otic neuralgia, Hunt’s syndrome

Rapp-Hodgkin syndrome

AD, AR?; absent dermatoglyphics, cleft lip/palate, coarse scalp hair, dry skin, epiphora, ectropion AKA anhidrotic ectodermal dysplasia

Rasin’s sign

brownish pigmentation on lid margins; hyperparathyroidism  AKA Jellinek’s sign

Raynaud’s sign

acrocyanosis

Reed’s syndrome

familial leiomyomatosis cutis et uteri

Refsum’s disease

AR; phytanic oxidase deficiency; arrhythmias, ataxia, bony anomalies, deafness, hyperkeratosis, lenticular opacity, retinitis pigmentosa AKA heredopathia atactica polyneuritiformis

Reiter’s syndrome

seronegative asymmetric arthropathy with one or more; cervicitis, circinate balanitis, conjunctivitis, dysentery, keratoderma blennorrhagicum, stomatitis, urethritis; males 9:1, HLA-B27 (80%)

REM syndrome, reticular erythematous mucinosis syndrome

women; photosensitive reticulated erythematous macules & papules with dermal mucin

Rendu-Osler-Weber syndrome

hereditary hemorrhagic telangiectasia  AKA Osler-Weber-Rendu syndrome

reticulate pigmented anomaly of the flexures

Dowling-Degos’ disease

Reye’s syndrome

acute noninflammatory encephalopathy (lethargy, confusion, vomiting), hepatitis preceded by varicella (20-40%) & usually aspirin  AKA infantile digital fibromatosis

Richner-Hanhart syndrome

AR; 16q22, AKA tyrosinemia type II; tyrosine aminotransferase deficiency, MR, palmoplantar keratoderma, severe keratitis

Richter’s syndrome

development of large cell lymphoma in patient with chronic lymphocytic lymphoma

Riley-Day syndrome

AR; defective lacrimation, skin blotching, emotional instability, motor incoordination, absence of pain sensation leading to burns & bitten tongue, hyporeflexia, erythema of face & trunk, cyanosis of extremities, corneal anesthesia, hyperhidrosis, hypertension AKA familial dysautonomia

Riley-Smith syndrome

AD; multiple lymphatic venous malformations & pseudo-papillomas, macrocephaly

Ritter’s disease

S. aureus infection elaborating exfoliatin, leading to denuded skin  AKA staphylococcal scalded skin syndrome

Riyadh chromosome breakage syndrome

depigmentation, MR, silver hair

Roberts phocomelia syndrome

upper limb reduction malformation, flexion contractures of knees, silver hair, IUGR, MR

Romana’s sign

unilateral bipalpebral edema; Chagas’ disease, oculoglandular syndrome

Rombo syndrome

AD; atrophoderma vermiculatum, BCC, hypotrichosis, milia, peripheral vasodilation with cyanosis

Rosai-Dorfman syndrome

sinus histiocytosis with massive LAD

Rosenthal-Kloepfer syndrome

corneal leukomata, acromegaloid appearance, cutis verticis gyrata

Ross syndrome

progressive segmental anhidrosis with tonic pupils, absent DTRs

Roth’s spots

conjunctival petechiae; subacute bacterial endocarditis

Rothmann-Makai syndrome

lipogranulomatosis subcutanea; idiopathic lobular panniculitis with fat cell necrosis, lipophagic granuloma, cysts

Rothmund-Thomson syndrome

AR, 8; mostly females (some have C1q deficiency); atrophic hyperpigmented reticulated telangiectatic cutaneous plaques, alopecia, bone defects, cancer, dental dysplasia, hypogonadism, hypoparathyroidism, nail dystrophy, photosensitivity  AKA poikiloderma congenitale

Rothschild’s sign

loss of hair from lateral third of eyebrows; hypothyroidism (non-specific)

Rowell’s syndrome

erythema multiforme-like lesions occurring in patients with SLE & La/SS-B autoantibodies

Rozychi’s syndrome

achalasia, congenital deafness, leukoderma, muscle wasting

rubber man syndrome

Ehlers-Danlos syndrome

Rubinstein-Taybi syndrome, Rubinstein’s syndrome

mental & motor retardation, broad thumbs & great toe, keloid formation, short stature, characteristic facies, high palate, beaked nose, large foramen magnum, vertebral abnormalities

Rud’s syndrome

AR (?); associated with recessive X-linked ichthyosis, hypogonadism, MR, obesity, retinitis pigmentosa [may be the same disease as X-linked recessive ichthyosis]

Ruffini’s corpuscle

rare, subcutaneous acral skin receptor; unknown function

runting syndrome

GVH with diarrhea, dermatitis, HSM, hemolytic anemia, pancytopenia

Russell’s sign

callous (or calluses) on the dorsum of dominant hand; purging eating disorder

Russell-Silversyndrome., Russell’s syndrome

café-au-lait spots, incurved fifth fingers, lateral asymmetry, low birth weight, precocious puberty, short stature, syndactyly, triangular-shaped face, turned down corners of mouth

Ruvalcaba-Myhre-Smith syndrome

bony & craniofacial abnormalities, genital macules, intestinal polyposis