Eponyms and Syndromes - J to N

Jackson-Sertoli syndrome

AD, disruption of K17 expression; limited focal plantar keratoderma, woolly scalp hair, straight eyebrow hair, natal teeth AKA pachyonychia congenita type II, PED type II

Jadassohn-Lewandowsky syndrome

AKA pachyonychia congenita

AD; Type I; thickened dystrophic nails, blisters around callosities, palmoplantar hyperhidrosis, leukokeratosis oris, follicular keratosis, laryngeal keratosis with hoarseness

Type II; natal teeth and premature anodontia, steatocystoma multiples, follicular & palmoplantar keratosis without oral leukokeratosis

Type III; corneal dystrophy, mucocutaneous keratosis

Jadassohn-Pellizari anetoderma

postinflammatory anetoderma

Janeway lesion

non-tender erythematous macule on proximal palms & soles; endocarditis (5%), gonococcemia, hemolytic anemia, SLE, typhoid fever

Jarisch-Herxheimer reaction

Reaction that occurs when bacteria, dying from antibiotic treatment, release endotoxins into the body and exceed the liver and kidney's ability to detoxify.  It is manifested by chills, fever, headache, myalgias, and exacerbation of cutaneous lesions. Duration is typically a few hours.

Occurs in 50% of treated patients with primary syphilis and about 90% of patients with secondary syphilis.  Also can be seen in borreliosis, brucellosis, trichinellosis, and typhoid fever. 

AKA Herxheimer reaction

Jellinek sign

brownish pigmentation on lid margins; hyperparathyroidism AKA Rasin sign

Job syndrome

hyper IgE s. with red hair, atrophic nails, hyperextensible joints, cold abscesses

Johanson-Blizzard syndrome

AR; microcephaly, MR, congenital absent skin posterior midline scalp, sparse hair, ala nasi hypoplasia, café-au-lait macules, hypoplasia of nipples & areola

Johnston’s syndrome

XLR/monogenic autosomal; hyperkeratotic collodion baby-type skin with arthrogryposis & posterior column hypoplasia

Jones-Mote reaction

early form of delayed hypersensitivity; cutaneous basophil hypersensitivity that may occur with allergic contact dermatitis

Kallmann’s syndrome

anosmia & hypogonadotrophic hypogonadism, associated with X-linked ichthyosis

Kanagawa phenomenon

hemolysin produced by Vibrio parahaemolyticus associated with diarrhea

Kaposi-Irgang d.

lupus panniculitis, lupus profundus

Kasabach-Merritt syndrome

sporadic syndrome of infancy-platelet trapping in large hemangioma(s) leading to anemia, consumption coagulopathy, CHF, DIC, GI bleeding, thrombocytopenia

Kast’s syndrome

Maffucci’s syndrome

Kawasaki syndrome

infants/children; fever, edematous reddened palms & soles, polymorphous truncal exanthem, bilateral conjunctivitis, mucosal erythema  & strawberry tongue, cervical LAD, ulcerative gingivitis, enlarged cervical lymph nodes, cardiac complications (25%)  AKA mucocutaneous lymph node syndrome

keratoma hereditaris mutilans

Vohwinkel’s syndrome

keratosis follicularis

Darier’s disease, Darier-White disease

keratosis punctata palmaris et plantaris

Buschke-Fischer-Brauer disease

Kerr’s sign

alteration of the texture of skin below the somatic level of spinal cord lesion

Ketron-Goodman disease

generalized (disseminated) pagetoid reticulosis (mycosis fungoides)

KID s., keratitis-ichthyosis-deafness syndrome

sporadic, AR, AD; keratitis, ichthyosiform erythroderma, & profound neurosensory deafness alopecia, decreased sweating, malformed teeth, nail dystrophy, sometimes inflammatory corneal vascularization SCC may develop in childhood AKA Senter syndrome, Desmons’ syndrome, PED type XVI

Kimura’s d.

angiolymphoid hyperplasia with eosinophilia with different nature of proliferating vascular cells

Kindler s., Kindler-Weary syndrome

AR; 20p12.3 (KIND1) codes for kindlin 1: acral blistering, poikiloderma, reticulate hyperpigmentation, scleroatrophy, sclerodactyly

kinky-hair syndrome

Menkes syndrome

kissing disease

popular name; infectious mononucleosis

Kitamura, reticulate acropigmentation of

AD; reticulate, slightly depressed pitting brown hyperpigmentation initially on dorsal hand, & then generalizing

Klippel-Trenaunay-Weber syndrome, Klippel-Trenaunay syndrome

sporadic, usually unilateral lower extremity lesions; angiokeratomas, AV fistulas, hemangiomas, hypertrophy of bone & soft tissue, lymphatic malformation, nevus flammeus, skin varices AKA Parkes-Weber syndrome

Koebner phenomenon

physical trauma leading to lesion spread; acquired perforating dermatosis, bullous pemphigoid, contact dermatitis, Darier’s d., erythema multiforme, Grover’s d., Hailey-Hailey d., lichen nitidus, lichen planus, porokeratosis of Mibelli, psoriasis (20%), pyoderma gangrenosum, sarcoid, verrucae, vitiligo (30%)  AKA isomorphic phenomenon

Koebner, EBS of

generalized epidermolysis bullosa simplex

Koenen tumors

fibromas developing around fingers & toes; tuberous sclerosis

Koplik spots

white spots on buccal mucosa; coxsackievirus A16, echovirus 9, measles

Krisovski’s sign

cicatricial lines radiating from the mouth; congenital syphilis

Kwashi shakes

Parkinsonian-like tremors in recovery phase; kwashiorkor

Kyrle’s disease

AR(?); rare perforating disorder; papules with hyperkeratotic plugs coalescing to plaques

LAMB syndrome

lentigines, atrial myxoma, mucocutaneous myxomas, & blue nevi

Langer-Giedion syndrome

AAD, 8q24.11; redundant skin, sparse hair, bulbous nose, MR, hyperextensible joints

Langerhan’s cell histiocytosis

malignant lymphoma, lung carcinoma, post-chemotherapy leukemia (esp. etoposide) AKA Hand-Schòller-Christian disease

Laugier-Hunziger syndrome

lentigines of lips, mouth, genitalia, perineal, nail changes (pigmented bands, hyperpigmentation)

Lawrence-Seip syndrome

AR; near total fat loss with somatic hypertrophy, acanthosis nigricans, diabetes mellitus AKA congenital total lipodystrophy

Leiner’s d.

C5 dysfunction leading to decreased serum phagocytosis (opsonic activity); eczema, seborrhea, erythroderma, diarrhea, recurrent gram negative infections, muscle wasting, & FTT in infants

LEOPARD syndrome

AD; lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth & development, deafness

leprechaunism

Donohue’s syndrome

leprosy

Hansen’s disease

Leroy’s syndrome

rare lipomucopolysaccharide disorder with skin thickening & bone changes

Leser-Trelat sign

multiple eruptive SK’s with pruritus; acanthosis nigricans, cancer (breast, colon, lung, prostate, stomach), lymphoma, malignant melanoma, mycosis fungoides, primary lymphoma (brain)

Letterer-Siwe disease/syndrome

AR; reticuloendotheliosis of childhood, eczema, hemorrhage, hepatosplenomegaly, progressive anemia  AKA acute disseminated histiocytosis X

leukocyte alkaline phosphatase deficiency

AR; defective antibacterial & antifungal protection, increased IgE & eosinophils, normal chemotaxis; eczema, pulmonary infections

leukocyte myeloperoxidase deficiency

AR; defective antibacterial, antifungal protection

Lewis hunting response

alternating vasodilatation & vasoconstriction during cold exposure (especially of hands)

linear sebaceous nevus syndrome

nevus sebaceous of Jadassohn

lipoid proteinosis

Urbach-Wiethe disease

Lisch nodules

melanocytic iris hamartomas; neurofibromatosis

Loffler’s syndrome

pulmonary infiltration & eosinophilia; rarely occurring with cutaneous larva migrans

Lofgren’s syndrome

arthralgia, bilateral hilar adenopathy, cough, erythema nodosum, fever

Louis-Bar syndrome

AR, 11q22; ataxia, cutaneous & bulbar telangiectasias, café-au-lait macule, decreased IgA, IgE & lymphocytes, granuloma, lymphoma, nystagmus, respiratory infections, sclerodermoid changes, solar lentigines AKA ataxia-telangiectasia 

Lovibond’s angle

cuticle angle greater than 180° indicates clubbing

low sulphur hair syndrome

trichothiodystrophy

Lucio phenomenon/reaction

hemorrhagic infarcts; Latapi’s lepromatosis

Lyell’s syndrome

toxic epidermal necrolysis

Madelung’s disease

benign symmetric lipomatosis

Maffucci’s syndrome

sporadic; enchondromatosis, limb deformities, multiple cutaneous/visceral hemangiomas, venous malformations, short stature, sarcomas AKA Kast’s syndrome

MAGIC syndrome

mouth and genital ulcerations with inflamed cartilage

Majocchi’s disease

purpura annularis telangiectoides

Majocchi’s granuloma

deep fungal infection producing granulomatous response AKA trichophytic granuloma

Mal de Meleda

AR; palmoplantar keratoderma with transgrediens

malignant atrophic papulosis

Degos’ disease

Marfan syndrome

AD, sporadic 5 & 15 elastic degeneration; striae distensae, elastosis perforans serpiginosa, arachnodactyly, ocular defects, skeletal defects

Marinesco-Sjogren syndrome

AR; cerebellar ataxia, mental & growth retardation, cataracts, brittle fingernails, sparse incompletely keratinized hair

Marjolin’s ulcer

carcinoma appearing in any type of skin scar

Maroteaux-Lamy syndrome

mucopolysaccharidosis; deficiency of N-acetylgalactosamine-4-sulfatase, dermatan sulfate in urine & metachromatic granules in leukocytes

Masson’s pseudoangiosarcoma

intravascular papillary endothelial  hyperplasia

mastocytosis syndrome

episodic s. in some patients with systemic mastocytosis; bone lesions, HSM, skin lesions

Mauserung phenomenon

stratum corneum shed in full-thickness sheets, leaving  red tender base; bullous ichthyosis

McCune-Albright syndrome

sporadic; café-au-lait macules, hyperthyroidism, polyostotic fibrous dysplasia, precocious puberty  AKA Albright’s syndrome

McDonald’s acne

acne exacerbation from work near a deep fat fryer

Mee’s lines

paired narrow white transverse nail lines; arsenic poisoning

Meischer’s granuloma

actinic GA; annular elastolytic granuloma, erythema nodosum, Sweet’s syndrome  AKA actinic granuloma

Meischer’s nevi

dome shaped nevi on face

Meissner’s receptor

upper dermal papillae receptors; unknown function

Meleney’s gangrene

progressive bacterial synergistic gangrene

Meleney’s ulcer

Meleney’s gangrene with burrowing necrotic fistulas through tissue planes

Melkersson’s syndrome, Melkersson-Rosenthal syndrome

AD; triad of recurrent noninflammatory orofacial swelling, relapsing facial paralysis & fissured tongue (lingua plicata) AKA granulomatous chelitis

Mendes de Costa syndrome

AD; ichthyosis with transient migratory macular erythroderma & fixed hyperkeratotic plaques AKA erythrokeratoderma viriabilis

Menkes’ syndrome, Menkes’ kinky hair syndrome

XLR, copper transport abnormality, tyrosinase deficiency; characteristic facies, trichorrhexis nodosa, pili torti, monilethrix, severe cerebral degeneration & arterial change, death in infancy

Mibelli, porokeratosis of

AD, rare; plaques with coronoid lamellae usually on acral surfaces AKA classic porokeratosis

Michelin tire baby

appearance of rolls of fatty tissue; generalized congenital smooth muscle hamartoma, generalized nevus lipomatosus

MIDAS syndrome

microphthalmia, dermal aplasia, sclerocornea

Miescher-Melkersson-Rosenthal syndrome

Melkersson’s syndrome

Milroy’s disease

primary (essential) lymphedema

Mkar disease

granuloma multiforme

Mondor’s disease

thrombophlebitis of large subcutaneous veins of lateral chest & breast

Mongolian spots

blue-brown pigmented patch on lower back & buttocks of infants; Asians, blacks, inborn error of metabolism; GMI type 1 gangliosidosis

monilethrix

AD; beaded hair that breaks less than an inch long

Montgomery’s syndrome

xanthoma disseminatum

Moon’s molars

abnormal teeth; congenital syphilis AKA mulberry molars

Morquio’s syndrome

AR; mucopolysaccharidosis, excretion of keratan sulfate in urine, genu valgum, pectus carinatum, deafness, corneal clouding, platyspondyly, short neck & trunk

Morton’s neuroma

3^rd or 4^th inter-metatarsal foot space fibrosis & vascular proliferation with nerve entrapment

Moynahan’s syndrome

multiple symmetric lentigines, congenital mitral valve stenosis, dwarfism, genital hypoplasia, MR AKA progressive cardiomyopathic lentiginosis

Mucha-Habermann disease

PLEVA

Muckle-Wells syndrome

AD; chronic relapsing urticaria, fever, arthralgias, deafness, renal amyloidosis

mucocutaneous lymph node syndrome

Kawasaki disease

mucopolysaccharidoses

see table at end of this section

Muehrcke’s lines

paired white parallel transverse nail bands; hypoalbuminemia

Muir-Torre syndrome

AD, 2p; multiple sebaceous tumors; adenoma, multiple GI carcinomas, hyperplasia, BCC, KA, GU & GI carcinoma. AKA Torre syndrome

multiple carboxylase deficiency

deficiency of holocarboxylase synthetase or biotinidase, causing deficiency of carboxylase; alopecia, ataxia, developmental delay, hyperammonemia, hypotonia, metabolic ketoacidosis, organic aciduria, seizures, rash

multiple hamartoma syndrome

Cowden’s syndrome

multiple lentigines syndrome

LEOPARD syndrome, Moynahan syndrome

multiple mucosal neuroma syndrome

Sipple’s syndrome, multiple endocrine neoplasia type 2b

mutilating keratoderma

Vohwinkel’s syndrome

Naegeli-Franceschetti-Jadassohn syndrome

AD; reticulate hyperpigmentation hypohidrosis, severe enamel defects with loss of dentition

nail-patella syndrome

hereditary osteo-onychodysplasia; absent patella, clinodactyly, micronychia, triangular lunulae

NAME syndrome

AD; nevi, atrial myxoma, myxoid neurofibromas, ephelides, plus testicular tumors, adrenocortical disease, pituitary adenomas

Nekam disease

keratosis lichenoides chronica

NERD syndrome

nodules, eosinophilia, rheumatism, dermatitis; articular nodules, dermographism, episodic hand & foot edema, eosinophilia, generalized pruritic dermatitis, urticaria

Netherton’s syndrome

AR; ichthyosis linearis circumflexa (pathognomonic), trichorrhexis invaginata (hair shaft defect), atopic diathesis, sometimes MR & aminoaciduria

Neu-Laxova syndrome

AR, fatal; abnormal face, eclabion, ectropion, IUGR, limb deformities, microcephaly, severe hyperkeratosis

Neumann, pemphigus vegetans of

more extensive pemphigus vulgaris than pemphigus vegetans of Hallopeau

neutral lipid storage disease

Chanarin-Dorfman syndrome

nevus elasticus

pseudoxanthoma elasticum

nevus fuscocaeruleus opththalmomaxillaris

unilateral, usually facial, slate-gray macules AKA nevus of Ota

nevus lipomatosus cutaneous superficialis

Hoffman-Zurhelle syndrome

nevus sebaceous of Jadassohn

linear sebaceous nevus syndrome

Nezelof’s syndrome

AR, XL, spontaneous; thymic dysplasia with normal immunoglobulins, absent T cell function, chronic infections, chronic mucocutaneous Candida, purine nucleoside phosphorylase deficiency (some)

Nicolaides-Baraitser syndrome

brachydactyly, MR, prominent lower lip, sparse hair, short metacarpals

Niemann-Pick disease, Niemann’s disease

Five types; lysosomal storage disease deficiency of sphingomyelin phosphodiesterase with sphingomyelin accumulation in reticuloendothelial system

Nikolsky’s sign

separation of dermal/epidermal layer with stroking; bullous impetigo, bullous pemphigoid, epidermolysis bullosa, GVH disease, intracutaneous bulla formation, pemphigus erythematosus, pemphigus foliaceus, pemphigus vulgaris, SSSS, Stevens-Johnson syndrome, toxic epidermal necrolysis

Nissl arteritis

endarteritis of small arteries & arterioles resulting in thrombotic infarction; syphilis

Noonan’s syndrome

congenital heart disease, hypogonadism, ptosis, short stature, webbed neck