Eponyms and Syndromes - S to Z

Sabinas syndrome

AR; brittle hair, MR, nail dystrophy, ocular dysplasia, xerosis

Sanfilippo syndrome

mucopolysaccharidosis, excretion of heparan sulfate in urine; generalized hirsutism, hepatomegaly, macrocephaly, MR, death before age 20

SAPHO syndrome

synovitis, acne, pustulosis, hyperostosis, osteitis

Satoyoshi syndrome

early onset alopecia areata, malabsorption, painful muscle spasms, short stature, skeletal defects

scalded skin syndrome

AKA dermatitis exfoliativa neonatorum, Ritter’s d.

SCARF syndrome

XLR (?); skeletal abnormalities, craniostenosis, cutis laxa, ambiguous genitalia, retardation, facial anomalies

scarlatinella

mild febrile childhood illness with erythematous exanthem; Coxsackie ECHO virus group, Staph/Strep toxin  AKA 4th disease, Dukes’ disease, Filatow-Dukes disease

Schafer’s syndrome, Schafer-Branauer syndrome

pachyonychia congenita with physical & mental retardation

Schamberg disease

progressive pigmented purpuric dermatosis; tan macules with minute petechiae on lower extremities

Schimmelpenning syndrome

sporadic, AD; AKA epidermal nevus syndrome

Schimmelpenning-Feverstein-Mims syndrome

systemic nevi in Blaschko’s lines, mild MR, skeletal abnormalities

Schinzel-Giedion syndrome

AR: narrow, deep set triangular nails, telangiectasias of nose & cheeks, dermatoglyphic changes, simian crease, hypertrichosis

Schnitzler’s syndrome

monoclonal IgM, arthralgia, bone pain, fever, lymphadenopathy, hepatomegaly, hyperostosis, nonpruritic urticarial vasculitis

Schnyder’s syndrome

progressive partial symmetrical erythrokeratoderma with deafness

Schönlein-Henoch syndrome

nonthrombocytopenic purpura due to vasculitis in children; arthropathy, arthritis, erythema, GI symptoms, renal disease, urticaria AKA Henoch-Schönlein purpura

Schopf-Schulz-Passarge syndrome

AR, diffuse symmetric PPK; fragile nails, sparse hair, eyelid cysts, hypodontia, hypotrichosis, longitudinal & oblique nail furrows AKA PED type XIX

Schultz-Charlton phenomenon

(historic test) intradermal injection of 0.1 mL of antitoxin into area of scarlet fever rash producing blanching at site of injection; scarlet fever

Schwachman’s syndrome

AR; exocrine pancreatic insufficiency, growth retardation, impaired neutrophil chemotaxis, neutropenia, recurrent infections, skeletal defects, with ichthyosiform or eczematous change

Schweninger-Buzzi anetoderma

idiopathic anetoderma without preceding lesions

Seckel’s syndrome

AR; hypodontia, pancytopenia, simian crease, skeletal defects, trident hands AKA bird-headed dwarfism

Secretans syndrome

traumatic edema of dorsal hand (factitial)

Seeligmuller’s sign

mydriasis of side of face affected by neuralgia

Seidlmeyer’s syndrome

acute hemorrhagic edema of infancy

Seip’s syndrome

accelerated osseous maturation, lipodystrophy, muscular hypertrophy

Senear-Usher syndrome

pemphigus erythematosus

Senter syndrome

keratitis, ichthyosis, deafness  AKA Desmons syndrome, KID syndrome

serum sickness syndrome

develops 8-12 days after administration of serum proteins; albuminuria, arthralgia, fever, hypocomplementemia, LAD, leukopenia, nephritis, splenomegaly, urticaria

severe combined immunodeficiency syndrome SCIDs)

XLR, sporadic, AR; decreased humoral & cell-mediated immunity, absence of delayed hypersensitivity, lack of immunoglobulins, lymphocytopenia, GVH in utero, eczema, recurrent infections, recurrent Candidiasis, diarrhea, FTT, death by age 2

Sezary syndrome

CTCL with generalized exfoliative erythroderma, intense pruritus, LAD, Sezary cells (skin, lymph nodes, blood)

Shab-Waardernburg syndrome

Waardenburg’s syndrome

Shapira’s syndrome

ataxia, developmental delay, hair defects (sparse, brittle, light color), short stature

Shprintzen’s syndrome

marfanoid features with craniosynostosis AKA Shprintzen-Goldberg syndrome

Shulman’s syndrome

eosinophilic fasciitis

sideropenic dysphagia

Plummer-Vinson syndrome

Siegert’s sign

short, medially curved 5^th fingers; Down syndrome

Siemens, ichthyosis bullosa of

AD, keratin 2e mutations; similar to EHK

Siemerling-Creutzfeldt d.

adrenal atrophy, early death, hyperpigmentation, leukodystrophy

Silex’s sign

furrows radiating from mouth; congenital syphilis

Silver-Russell syndrome

Russell-Silver syndrome

Silvestrini-Corda syndrome

elevated levels of circulating estrogens from liver failure; atrichia, eunuchoid body, gynecomastia, hypogonadism, sterility

Sipple’s syndrome

AD, sporadic; mucosal neuromas, medullary carcinoma of thyroid, pheochromocytoma, marfanoid body habitus  AKA multiple mucosal neuroma syndrome, multiple endocrine neoplasia type IIa

sister chromatid exchanges

Bloom’s syndrome, Cockayne syndrome, dyskeratosis congenita, Fanconi’s anemia

Sister Marie Joseph sign

umbilical metastasis; colon, gastric, ovarian

sixth disease

exanthema subitum (HHV 6)

Sjögren’s syndrome

keratoconjunctivitis sicca, xerostomia with connective tissue disease; polymyositis, RA, scleroderma, SLE

Sjögren-Larsson syndrome

AR; congenital oligophrenia, ichthyosis, spastic pyramidal symptoms

Sneddon’s syndrome

livedo vasculitis with cerebral infarction; aphasia, hemiplegia, &/or hemianopsia

Sneddon-Wilkinson disease

subcorneal pustular dermatosis

Sobye’s massage

BID facial massage; rosacea

Solomon syndrome

epidermal nevus syndrome

Soret band

390-410 nm radiation band; absorbed by porphyrins

Sotos’ syndrome

abnormal facies, genital lentigines, macrocephaly, skeletal defects

Spiegler-Fendt sarcoid

pseudolymphoma

Spitz’s nevi

dysplastic nevi

Splendore-Hoeppli phenomenon

refractile amorphous eosinophilic matrix; immunoglobulin to S. aureus, P. aeruginosa, coagulase-negative staphylococci, streptococcal species, Escherichia coli, Proteus species

staphylococcal scalded skin syndrome

Ritter’s disease

steatocystoma multiplex

AD; presents at puberty, numerous cysts over sternum, chest, axillae, proximal arms

Steijlen’s syndrome

atrichia, MR, palmoplantar keratoderma, tooth loss

Stein-Leventhal syndrome

anovulation, hirsutism, oligomenorrhea, polycystic ovaries  AKA polycystic ovary syndrome

Stevens-Johnson syndrome

erythema multiforme minor with mucocutaneous & systemic lesions AKA erythema multiforme major

Stewart-Treves syndrome

lymphangiosarcoma following lymphedema/lymphadenectomy, usually after radical mastectomy

stiff hand syndrome

fibrosis of hand leading to stiffness; diabetes

Still’s disease

juvenile RA

Sturge-Weber ssyndrome

sporadic; usually unilateral nevus flammeus over trigeminal nerve, progressive tissue & bone hypertrophy beneath nevus, vascular malformation in leptomeninges, hemiparesis, MR, seizures

subcorneal pustular dermatosis

Sneddon-Wilkinson disease

Sucquet-Hoyer canal

contains glomus cells giving rise to glomus tumors

Sulzberger-Garbe syndrome

exudative discoid & lichenoid dermatitis

Sutton’s nevus

halo nevus

sweat retention syndrome

occlusion of sweat ducts; pruritus, dermatitis, miliaria

Sweet’s syndrome

acute febrile neutrophilic dermatosis

Takayasu’s disease

vasculitis of aortic arch & its major branches

Tangier disease

AR, lipoprotein & lipid metabolism disorder; absence of HDL, deficient apolipoproteins A-I & A-II, low to normal LDL, high triglycerides, accumulation of cholesteryl esters, enlarged orange tonsils, pharyngeal mucosa, rectal mucosa, recurrent peripheral neuropathy, splenomegaly, corneal infiltration

Tay disease

(P)IBIDS = trichothiodystrophy

Tay syndrome

bone defects, café-au-lait spots, hypersplenism, lentigines, MR, physical retardation, vitiligo

Texier’s disease

allergic reaction to Vitamin K injection

Tietze’s syndrome

AD; albinism, with normal eye pigment, deaf-mutism, eyebrow hypoplasia

TORCH syndrome

toxoplasmosis, other (syphilis, bacterial sepsis), rubella, CMV, herpes; chorioretinitis, deafness, HSM, jaundice, microcephaly, purpura, thrombocytopenia

Torre syndrome

Muir-Torre syndrome

Touraine-Solente-Gole syndrome

AD; cutis verticis gyrata, short stature, thin yellow nails AKA pachydermoperiostosis

toxic epidermal necrolysis

Lyell’s syndrome

toxic shock syndrome

desquamation 1-2 weeks after onset, disorientation, fever, GI upset, hepatic changes, hypotension, mucous membrane hyperemia, myalgia, rash, renal abnormalities, thrombocytopenia

transient acantholytic dermatosis

Grover’s disease

trench mouth

Vincent’s infection

trichomegaly

excessive eyelash &eyebrow hair growth associated with dwarfism, MR, retinal pigment degeneration

trichothiodystrophy

Tay’s disease, (P)IBIDS

triparanol syndrome

use of triparanol causing alopecia, poliosis, ichthyosis, irreversible cataracts, impotence

Trousseau’s syndrome

hypercoagulable state secondary to malignancy of pancreas, stomach, lung, prostate, colon, ovaries, gallbladder leading to thrombophlebitis

tuberous sclerosis

Bourneville’s syndrome, Bourneville-Pringle syndrome

Turcot’s syndrome

familial adenomatous polyps, CNS tumors

Turner syndrome

XO or 45X; disorder of gonadal differentiation, short stature undifferentiated gonads, neck webbing, low posterior hair line, cardiac defects, sterility

Turner’s sign

blood causing blue discolored skin at costovertebral angle; acute hemorrhagic pancreatitis

twenty nail syndrome

trachyonychia

Tyndall effect

blue appearance of melanin in dermal lesions due to selective light absorption

Tyndall effect/phenomenon

light absorption  in deep dermis lending blue color to lesions

Tyson’s glands

sebaceous glands of prepuce

Ullrich-Turner syndrome

45X, female phenotype; lymphedema, melanocytic nevi, mild MR, short stature, sexual infantilism, webbed neck

uncombable hair syndrome

AD; pili torti & canaliculi; blond dry thick shiny hair

unilateral nevoid telangiectasia

syndrome of generalized essential telangiectasia of vascular nevus under influence of estrogen

Unna’s nevi

exophytic nevi with silhouette of fibroepithelial polyps

Unna-Thost syndrome

AD; diffuse palmoplantar keratoderma

Unverricht’s disease

Baltic myoclonic epilepsy

Urbach-Wiethe disease

AR; infiltrative hyaline deposits in skin, mucous membranes & internal organs AKA lipoid proteinosis, hyalinosis cutis et mucosae

vagabond’s disease, vagrant’s disease

skin discoloration due to chronic Pediculus humanus corporis bites  AKA parasitic melanoderma

Van Lohuizen’s syndrome

cutis marmorata telangiectasia congenita

Venus’ necklace

hypopigmented macules on liner pigmented reticulae patches; secondary syphilis AKA leukoderma colli syphiliticum

Verbov-Sharland syndrome

palmoplantar keratoderma with neurosensory deafness

Vincent’s infection

acute necrotizing ulcerative gingivitis AKA trench mouth

Vinson’s syndrome

Plummer-Vinson syndrome

Vogt triad

epilepsy, MR, skin abnormalities (adenoma sebaceum); <1/3 of patients have full triad

Vogt-Koyanagi-Harada ssyndorme, Vogt-Koyanagi syndrome

alopecia, bilateral uveitis, choroiditis, deafness, headache, meningism, poliosis, retinal detachment, vision loss, vitiligo, vomiting, sometimes glaucoma or vertigo

Vohwinkel syndrome

AD; palmoplantar keratoderma with digital pseudoainhum, scarring alopecia & high frequency hearing loss AKA keratoma hereditaris mutilans, mutilating keratoderma

Voigt’s lines

pigment demarcation lines of dorsolateral arms; blacks & Asians AKA Futcher’s lines

von Hippel-Lindau disease

AD, 3p25-26; hereditary phakomatosis; angiomatous lesions (kidneys, liver, pancreas), capillary malformation (rare), café au lait macules, pheochromocytoma, renal cell cancer, vascular malformations in cerebellum & brain stem, retinal hemangioblastoma

von Recklinghausen’s disease

AD 17q11.2; neurofibromatosis type I

Vorner’s syndrome

clinical appearance of Unna-Thost s. with epidermolytic hyperkeratosis on biopsy

Waardenburg’s syndrome

AD, 2q35; white forelock, neurosensory deafness, wide nasal bridge, heterochromia of iris

Wachters PPK

Brunauer-Fuhs-Siemens PPK

Wagner-Unverricht disease

dermatomyositis

Watson’s syndrome

deletion of NF1 gene; variant of neurofibromatosis 1, multiple café-au-lait macules, neurofibromas (few), MR, pulmonary valvular stenosis, short stature

Weber-Christian syndrome

idiopathic lobular panniculitis; relapsing febrile nodular nonsuppurative panniculitis-arthralgias, fever, malaise

Weber-Cockayne syndrome

localized epidermolysis bullosa simplex

Wegener’s granulomatosis

+ C-ANCA, facial and periauricular lesions;  malignant pyoderma

Weil’s disease

Leptospira interrogans serovar icterohemorrhagiae; hepatorenal failure-jaundice, oliguria, purpura

Well’s syndrome

eosinophilic cellulitis

Werner’s syndrome

AR, 8p12; premature aging with baldness, cataracts, muscular atrophy, osteoarthritis, scleroderma, subcutaneous calcification, telangiectasias, diabetes mellitus tendency, neoplasms, short stature

Westerhof’s syndrome

AD; café-au-lait macules, growth retardation, hyper & hypopigmented macules, MR

Whipple’s disease

abdominal pain, anorexia, arthritis, CNS disturbance, diarrhea, fever, LAD, skin pigment changes, steatorrhea  AKA intestinal lipodystrophy

Wickham’s striae

reticulate white lines on top of papules & buccal mucosa; lichen planus

Williams syndrome

AD; dysmorphic facies, supravalvular aortic stenosis, velvety skin

Wilson’s disease

AR, q13; copper metabolism defect of ceruloplasmin, copper accumulates in liver, brain, kidney, cornea, azure lunulae, hyperpigmented legs, Kayser-Fleischer ring  AKA hepatolenticular degeneration

Wimberger sign

osteochondritis of medial proximal tibial metaphysis; congenital syphilis AKA cat bite sign

Winterbottom’s sign

enlarged posterior cervical lymph nodes; trypanosomiasis (Gambian)

Wiskott-Aldrich syndrome

XLR, immunodeficiency; autoimmune phenomena, cyclic neutropenia, decreased chemotaxis, eczema, increased malignancy, recurrent pyogenic infections, thrombocytopenia, decreased IgA & IgE, normal/increased/decreased IgM, platelet dysfunction

Woolf’s syndrome

piebaldism with deafness

Woringer-Kolopp disease

localized pagetoid reticulosis

Woronoff’s ring

white blanching skin ring (leukoderma); psoriasis

Wyburn-Mason’s syndrome

sporadic; facial nevus flammeus, ataxia, AV malformation of optic nerve & retina, enlarged facial veins, MR, nystagmus, seizures

xeroderma pigmentosa

AR; deficient enzyme in excisional repair of UV-damaged DNA; extreme UV photosensitivity; keratoses, malignancies (BCC, SCC), papillomas, telangiectasia

xerodermic idiocy

De Sanctis-Cacchione syndrome

X-linked hypogammaglobulinemia

decreased IgM, IgG, IgA, C1q, cutaneous & systemic pyogenic infections, chronic echovirus infection with dermatomyositis-like finding, eczema, URI, osteomyelitis, pneumonia, joint infections, large joint arthritis, no B cells

yellow nail syndrome

lymphedema with smooth, thickened, curved, yellow discolored nails

Zinsser-Cole-Engman syndrome

XLR/AD; reticular pigmentation progressing to atrophy & telangiectasia, bullous conjunctivitis, esophageal strictures, leukoplakia (mucous membranes), mental deficiency, nail dystrophy, palmoplantar hyperkeratosis & hyperhidrosis, pancytopenia, skeletal disorders, thrombocytopenia AKA dyskeratosis congenita

Ziprowski-Margolis syndrome

XLR, males; Xg26.3-q27.1; deaf-mutism, heterochromic irides, piebald-like hypomelanosis of skin & hair

Zoon’s balanitis (vulvitis)

variant of lichen planus (?) of genitalia  AKA plasma cell balanitis (vulvitis)

Zunich-Kaye syndrome

CHIME syndrome