A Rule Concerning the Segmental Manifestation of Autosomal Dominant Skin Disorders

Happle, Rudolf

doi:10.1001/archderm.1997.03890480025004

Cited by 114 publications

(24 citation statements)

References 30 publications

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“…In conclusion, multiple glomus tumors can be added to the list of autosomal dominant skin disorders that sometimes show a type 2 segmental involvement [5]. …”

Section: Discussionmentioning

confidence: 99%

“…This type is severer and usually superimposed on the ordinary trait. Clinical examples suggesting a type 2 segmental involvement so far included epidermolytic hyperkeratosis of Brocq, Darier disease, Hailey-Hailey disease, neurofibromatosis 1, cutaneous leiomyomatosis, multiple syringomas and disseminated superficial actinic porokeratosis [5]. …”

Section: Introductionmentioning

confidence: 99%

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Type 2 Segmental Manifestation of Multiple Glomus Tumors: A Review and Reclassification of 5 Case Reports

Happle

König²

1999

Dermatology

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Background: In various autosomal dominant skin disorders, segmental forms reflecting mosaicism have been reported. Recently, two different types of mosaic manifestation have been delineated. Type 1 reflects heterozygosity for the underlying mutation and shows a degree of severity as observed in the corresponding nonmosaic phenotype. Type 2 originates from loss of heterozygosity, shows an excessively severe involvement and is usually superimposed on the disseminated lesions of the ordinary trait. Objective: We wanted to exemplify further the proposed rule of dichotomy. Methods: We have screened the literature on multiple glomus tumors, a trait that follows an autosomal dominant mode of transmission. Results: We found 5 cases of multiple glomus tumors suggesting a type 2 segmental involvement. In all of these cases, a unilateral band-like or patchy arrangement of excessively pronounced glomus tumors was associated with disseminated lesions corresponding to the ordinary phenotype, and in 3 cases other family members were affected with disseminated glomus tumors. The unilateral agminated lesions were reported to be present in early childhood, whereas the disseminated lesions appeared later. Conclusion: Multiple glomus tumors can be added to the list of autosomal dominant skin disorders that may show a type 2 segmental involvement.

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“…In conclusion, multiple glomus tumors can be added to the list of autosomal dominant skin disorders that sometimes show a type 2 segmental involvement [5]. …”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Type 2 Segmental Manifestation of Multiple Glomus Tumors: A Review and Reclassification of 5 Case Reports

Happle

König²

1999

Dermatology

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“…This theory, however, is today no longer generally valid. According to a new rule of dichotomy, two types of segmental manifestation can be distinguished [9]. Type 1 reflects heterozygosity for the underlying mutation and shows a degree of severity similar to that of the corresponding nonmosaic phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…1). This form was designated as type 1 segmental manifestation of autosomal skin disorders by Happle [9]. The involved area reflects heterozygosity for the underlying postzygotic mutation and shows, therefore, a degree of severity that corresponds to the expression of the nonsegmental phenotype [10](fig.…”

Section: Introductionmentioning

confidence: 99%

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Darier Disease with Paired Segmental Manifestation of Either Excessive or Absent Involvement: A Further Step in the Concept of Twin Spotting

Itin

Happle

2002

Dermatology

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For the first time, we describe a case of type 2 segmental Darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with Darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and König in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in Darier disease.

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A Rule Concerning the Segmental Manifestation of Autosomal Dominant Skin Disorders

Cited by 114 publications

References 30 publications

Type 2 Segmental Manifestation of Multiple Glomus Tumors: A Review and Reclassification of 5 Case Reports

Type 2 Segmental Manifestation of Multiple Glomus Tumors: A Review and Reclassification of 5 Case Reports

Darier Disease with Paired Segmental Manifestation of Either Excessive or Absent Involvement: A Further Step in the Concept of Twin Spotting

Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis

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