Información del artículo
Abstract
In autosomal dominant skin disorders, a superimposed mosaic involvement arranged in a linear or otherwise segmental pattern is sometimes noted. Molecular proof of such “type 2 segmental manifestation” has so far been provided in Hailey-Hailey disease and Cowden syndrome. A similar superimposed segmental involvement can be found in numerous common disorders with a polygenic background, such a psoriasis, lichen planus, or vitiligo. In polygenic diseases, however, we can never recognize with certainty a “type 1 segmental manifestation”, which is why we should use more neutral terms in the form of “isolated” versus “superimposed” segmental involvement. In the near future, the new paradigm of superimposed segmental manifestation may hopefully help elucidate the molecular basis of both monogenic and polygenic skin disorders.
Key words:
autosomal dominant skin disorders
type 2 segmental manifestation
loss of heterozygosity
polygenic skin disorders
isolated versus superimposed segmental manifestation
Resumen
En los trastornos cutáneos autosómicos dominantes a veces se aprecia un mosaicismo sobreimpuesto con una disposición en patrón lineal o segmentario. La prueba molecular de ese tipo de «manifestación segmentaria tipo 2» la han proporcionado la enfermedad de Hailey-Hailey y el síndrome de Cowden. En numerosos trastornos frecuentes con una herencia poligénica como la psoriasis, el liquen plano o el vitíligo, se puede encontrar una afectación segmentaria sobreimpuesta similar.
Sin embargo, en las enfermedades poligénicas nunca podemos reconocer con certeza una «manifestación segmentaria tipo 1», por lo que utilizamos términos más neutrales, como afectación segmentaria «aislada» frente a «sobreimpuesta».
En un futuro próximo el nuevo paradigma de manifestación segmentaria sobreimpuesta ayudará, en el mejor de los casos, a esclarecer la base molecular de los trastornos cutáneos monogénicos y poligénicos.
Palabras clave:
trastornos cutáneos autosómicos dominantes
manifestación segmentaria tipo 2
pérdida de heterocigosidad
trastornos cutáneos poligénicos
manifestación segmentaria aislada frente a sobreimpuesta
El Texto completo está disponible en PDF
References
[1.]
H. Lausecker.
Beitrag zu den Naevo-Epitheliomen.
Arch Dermatol Syphilis (Berl), 194 (1952), pp. 639-662
[2.]
P. Rimbaud, A. Pagès, M. Lisbonne.
Naevus baso-cellulaire géant en transformation maligne.
Bull Soc Fr Dermatol Syphiligr, 71 (1964), pp. 313-316
[3.]
G. Mezzadra.
Leiomioma cutaneo multiplo ereditario: studio di un caso sistematizzato in soggetto maschile appartenente a famiglia portatrice di leiomatosi cutanea e fibromatosi uterina.
Minerva Dermatol, 40 (1965), pp. 388-393
[4.]
U. Berendes, A. Kühner, U.W. Schnyder.
Segmentary and disseminated lesions in multiple hereditary cutaneous leiomyoma.
Humangenetik, 13 (1971), pp. 81-82
[5.]
R. Happle.
Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis.
Am J Med Genet, 39 (1991), pp. 237
[6.]
R. Happle.
Mosaicism in human skin: understanding the patterns and mechanisms.
Arch Dermatol, 129 (1993), pp. 1460-1470
[7.]
R. Happle.
Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity.
Am J Med Genet, 66 (1996), pp. 241-242
[8.]
R. Happle.
A rule concerning the segmental manifestation of autosomal dominant skin disorders: review of clinical examples providing evidence for dichotomous types of severity.
Arch Dermatol, 133 (1997), pp. 1505-1509
[9.]
F. Camacho, E. Jorquera, F.J. Vasquez, A. Hevia.
Giant zoniform leiomyoma: light and electron microscopic study.
Eur J Dermatol, 4 (1994), pp. 384-386
[10.]
R. Happle.
Large plexiform neurofibromas may be explained as a type 2 segmental manifestation of neurofibromatosis 1.
Am J Med Genet, 98 (2001), pp. 363-364
[11.]
P.H. Itin, S.A. Buechner.
Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.
Am J Med Genet, 85 (1999), pp. 351-354
[12.]
R. Happle.
Segmentale Typ-2-Manifestation autosomal dominanter Hautkrankheiten: Entwicklung eines neuen formalgenetischen Konzeptes.
Hautarzt, 52 (2001), pp. 283-287
[13.]
R. Happle, A. König.
Type 2 segmental manifestation of multiple glomus tumors: a review and reclassification of 5 case reports.
Dermatology, 198 (1999), pp. 270-272
[14.]
R. Happle.
Loss of heterozygosity in human skin.
J Am Acad Dermatol, 41 (1999), pp. 143-164
[15.]
R. Happle.
Buschke-Ollendorff syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation.
Eur J Dermatol, 11 (2001), pp. 505
[16.]
T. Ehrig, C.J. Cockerell.
Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease.
J Am Acad Dermatol, 49 (2003), pp. 1163-1166
[17.]
R. Happle.
Type 2 segmental Cowden disease vs. Proteus syndrome.
Br J Dermatol, 156 (2007), pp. 1089-1090
[18.]
R. Happle.
Type 2 segmental trichoepitheliomatosis: a genetic concept that may explain congenital multiple trichoepitheliomas in the lines of Blaschko.
Pediatr Dermatol, 24 (2007), pp. 448-449
[19.]
B. Guarneri, F. Borgia, S.P. Cannavò, M. Vaccaro, R. Happle.
Multiple familial basal cell carcinomas including a case of segmental manifestation.
Dermatology, 200 (2000), pp. 299-302
[20.]
R. Happle, P.H. Itin, A.M. Brun.
Type 2 segmental Darier disease.
Eur J Dermatol, 9 (1999), pp. 449-451
[21.]
P.H. Itin, S.A. Büchner, R. Happle.
Segmental manifestation of Darier disease. What is the genetic background in type 1 and type 2 mosaic phenotypes?.
Dermatology, 200 (2000), pp. 254-257
[22.]
A. König, S. Hörster, F. Vakilzadeh, R. Happle.
Type 2 segmental manifestation of Hailey-Hailey disease: poor therapeutic response to dermabrasion is due to severe involvement of adnexal structures.
Eur J Dermatol, 10 (2000), pp. 265-268
[23.]
P. Poblete-Gutiérrez, T. Wiederholt, A. König, F.K. Jugert, Y. Marquardt, A. Rübben, et al.
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
J Clin Invest, 114 (2004), pp. 1467-1474
[24.]
R. Happle.
Mibelli revisited: a case of type 2 segmental porokeratosis from 1893.
J Am Acad Dermatol, (2009),
[25.]
R. Happle.
Type 2 segmental acanthosis nigricans: a historical case explained by a new concept.
Arch Dermatol, 144 (2008), pp. 1637
[26.]
A. Loffeld, N.J. McLellan, T. Cole, S.J. Payne, D. Fricker, C. Moss.
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
Br J Dermatol, 154 (2006), pp. 1194-1198
[27.]
X.P. Zhou, D.J. Marsh, H. Hampel, J.B. Mulliken, O. Gimm, C. Eng.
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
Hum Mol Genet, 22 (2000), pp. 765-768
[28.]
J.M. Smith, E.P. Kirk, G. Theodosopoulos, G.M. Marshall, J. Walker, M. Rogers, et al.
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
J Med Genet, 39 (2002), pp. 937-940
[29.]
R. Happle.
Linear Cowden nevus: a new distinct epidermal nevus.
Eur J Dermatol, 17 (2007), pp. 133-136
[30.]
Mibelli V. An uncommon form of keratodermia: “porokeratosis”. In: Unna PG, Morris M, Leloir H, Duhring LA, editors. Internationaler Atlas seltener Hautkrankheiten. International Atlas of Rare Skin Diseases. Atlas international des maladies rares de la peau. Fascicle IV, edited on October 1893, pp 5-10, plate XXVII. Hamburg: Voss; 1893.
[31.]
H.O. Curth.
Benign type of acanthosis nigricans: etiology.
Arch Dermatol, 34 (1936), pp. 353-366
[32.]
H.O. Curth.
Significance of acanthosis nigricans.
Arch Dermatol, 66 (1952), pp. 80-100
[33.]
H.O. Curth, B.M. Aschner.
Genetic studies on acanthosis nigricans.
Arch Dermatol, 79 (1959), pp. 55-66
[34.]
Curth HO. Acanthosis nigricans. Birth Defects: Oroginal Article Series 1971;7/8:31-9.
[35.]
H.O. Curth.
Unilateral epidermal nevus resembling acanthosis nigricans.
Br J Dermatol, 95 (1976), pp. 433-436
[36.]
S. Wright, J. Ryan.
Multiple familial eccrine spiradenoma with cylindroma.
Acta Derm Venereol, 70 (1990), pp. 79-82
[37.]
R.U. Sidwell, N. Francis, R. Grahame, F.M. Pope, C.B. Bunker.
Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III).
Clin Exp Dermatol, 28 (2003), pp. 323-325
[38.]
A.M. Eng, P. Brody, H.L. Rhee, D.M. Bronson.
Congenital ichthyosiform erythroderma and epidermal nevus.
Int J Dermatol, 30 (1991), pp. 284-287
[39.]
R. Happle, A. König.
Dominant traits may give rise to paired patches of either excessive or absent involvement.
Am J Med Genet, 84 (1999), pp. 176-177
[40.]
P.H. Itin, R. Happle.
Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting.
Dermatology, 205 (2002), pp. 344-347
[41.]
R. Happle.
Dohi Memorial Lecture. New aspects of cutaneous mosaicism.
J Dermatol, 29 (2002), pp. 681-692
[42.]
M. Gandola.
La porocheratosi di Mibelli: aspetti evolutivi tardivi e associazioni morbose insolite.
Boll Soc Medicochir, 65 (1951), pp. 273-292
[43.]
A. König, R. Happle.
Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis.
Eur J Dermatol, 10 (2000), pp. 590-592
[44.]
R. Renner, M. Sticherling.
Familial occurrence of a type 2 segmental manifestation of cutaneous leiomyomatosis.
J Dtsch Dermatol Ges, 3 (2005), pp. 695-699
[45.]
L. Kauppi, A.J. Jeffreys, S. Keeney.
Where the crossovers are: recombination distributions in mammals.
Nat Rev Genet, 5 (2004), pp. 413-424
[46.]
T.Y. Yoon, H.T. Lee, S.H. Chang.
Giant congenital multiple patch-like glomus tumors.
J Am Acad Dermatol, 40 (1999), pp. 826-828
[47.]
J.W. Demetree, P.G. Lang, J.T. St Clair.
Unilateral, linear, zosteriform epidermal nevus with acantholytic dyskeratosis.
Arch Dermatol, 115 (1979), pp. 875-877
[48.]
A. Palit, A.C. Inamadar, B.R. Yelikar.
Unilateral linear annular lesions in a child. Diagnosis: linear porokeratosis.
Pediatr Dermatol, 21 (2004), pp. 682-683
[49.]
M. Alam, A.D. Rabinowitz, D.E. Engler.
Gabapentin treatment of multiple piloleiomyoma-related pain.
J Am Acad Dermatol, 46 (2002), pp. S27-S29
[50.]
J.M. White, E. Calonje.
Painful red spots on the cheek of a young man-quiz case: nevoidal pilar leiomyoma.
Arch Dermatol, 144 (2008), pp. 1217-1222
[51.]
I. Kovalyshyn, P.S. Spencer, K.J. Busam, A.A. Marghoob.
Multiple tender papules in a 48-year-old man: multiple leiomyomatosis.
Arch Dermatol, 145 (2009), pp. 831-834
[52.]
M.K. Sifaki, S. Krueger-Krasagakis, A. Koutsopoulos, G.I. Evangelou, A.D. Tosca.
Botulinum toxin type A-treatment of a patient with multiple cutaneous piloleiomyomas.
Dermatology, 218 (2009), pp. 44-47
[53.]
L.M. Boon, J.B. Mulliken, O. Enjolras, M. Vikkula.
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.
Arch Dermatol, 140 (2004), pp. 971-976
[54.]
M.W. Chia, Y.K. Tay, W.L. Ng.
Multiple pebbly blue papules in a segmental distribution: glomuvenous malformation.
Pediatr Dermatol, 25 (2008), pp. 381-382
[55.]
S. Syed, M. Malone, K. Gajdosora, H. Kennedy, M. Vikkula, J.I. Harper.
Glomuvenous malformation: a challenging management problem.
Br J Dermatol, 159 (2008), pp. 1235
[56.]
E. Mahé, J. Zeller, J. Wechsler, P. Wolkensteoin, J. Revuz.
Grandes taches pigmentées pileuses au cours de la neurofibromatose de type 1: une forme atypique de neurofibromes.
Ann dermatol Venereol, 128 (2001), pp. 619-621
[57.]
S. Martínez-García, A. Vera-Casaño, C. Eloy-García Carrasco, J. del Boz-González, L. Martínez-Pilar, V. Crespo-Erchiga.
Elephantiasis neuromatosa in a patient with neurofibromatosis 1.
J Eur Acad Dermatol Venereol, 22 (2008), pp. 103-105
[58.]
Y.C. Chang, M. Colome-Grimmer, E. Kelly.
Multiple trichoepitheliomas in the lines of Blaschko.
Pediatr Dermatol, 23 (2006), pp. 149-151
[59.]
A. Assmann, N. Mandt, C.C. Geilen, U. Blume-Peytavi.
Buschke-Ollendorff syndrome: differential diagnosis of disseminated connective tissue lesions.
Eur J Dermatol, 11 (2001), pp. 576-579
[60.]
M.A. Kumar.
Simultaneous occurrence of disseminated superficial, linear and hypertrophic verrucous forms of porokeratosis in a child.
Indian J Dermatol Venereol Leprol, 70 (2004), pp. 363-365
[61.]
X. García-Navarro, J.R. Garcés, E. Baselga, A. Alomar.
Linear porokeratosis: excellent response to photodynamic therapy.
Arch Dermatol, 145 (2009), pp. 526-527
[62.]
S. Arora, G. Arora, P. Ranjan.
Relapsing linear acantholytic dermatosis in a four-year-old boy.
Indian J Dermatol Venereol Leprol, 71 (2005), pp. 351-353
[63.]
R. Happle.
Superimposed segmental manifestation of polygenic skin disorders.
J Am Acad Dermatol, 57 (2007), pp. 690-699
[64.]
Y. Kawachi, S. Taguchi, Y. Fujisawa, J. Furuta, Y. Nakamura, Y. Ishii, et al.
Superimposed segmental dermatitis with chronic prurigo.
Eur J Dermatol, 19 (2009), pp. 337-340
[65.]
R. Happle.
Superimposed linear lichen nitidus: a recent report revisited.
Eur J Pediatr Dermatol, 17 (2007), pp. 239
[66.]
M.C. Boente, G. Nadra, R. Asial, R. Happle.
Pronounced linear calcinosis in a boy with mild dermatomyositis: a further possible example of superimposed segmental manifestation of a polygenic disorder.
Dermatology, 219 (2009), pp. 55-57
[67.]
V. Boccaletti, B. Salsi, R. Ricci, G. De Panfilis.
Palmar lichen nitidus following Blaschko's lines with nail involvement in a child.
Eur J Pediatr Dermatol, 17 (2007), pp. 145-148
[68.]
D. Lipsker, C. Lenormand.
Classification of polygenic inflammatory diseases distributed along the lines of Blaschko.
Dermatology, 219 (2009), pp. 99-101
Copyright © 2009. Academia Española de Dermatología y Venereología
