Surgical treatment of CHILD nevus

ARTICLE

In 1980 Happle et al. introduced the term CHILD syndrome [1] which is today used as an acronym for "congenital hemidysplasia with ichthyosiform nevus and limb defects" [2]. The syndrome is usually characterized by a unilateral inflammatory epidermal nevus and ipsilateral limb defects that may vary from minimal deviations to complete absence of an extremity, as well as by defects of internal organs such as the musculoskeletal [3], cardiovascular [4] or central nervous system [5]. As a result of lyonization, the heterozygous state of various X-linked gene defects may give rise to a mosaic pattern of cutaneous lesions, which conforms to the system of lines on the skin as first described by Blaschko in 1901 [6]. The lines of Blaschko represent a developmental growth pattern of the skin and do not correspond to any known nervous, vascular, or lymphatic structure [7]. Clinical examples of nevoid skin lesions following these lines include incontinentia pigmenti, focal dermal hypoplasia, X-linked dominant chondrodysplasia punctata and the CHILD syndrome. Recently healing of mosaic atopic eczema ­ considered to be a genetic mosaic ­ by autotransplantation has been described by Turner et al. [8]. We report on the effect of surgical intervention in a young girl with an unusual manifestation of CHILD syndrome, in whom there was symmetrical and pronounced ptychotropic involvement of the large body folds [9].

Case report

Clinical examination of a 16-year-old girl showed an erythematous plaque at the right side of the neck, and symmetrically distributed erythematous plaques in the axillae, submammary folds and groin as well as on the vulva and perineum (Fig. 1). The lesions had a sharp and slightly irregular border and showed a yellowish, wax-like scaling. The yellowish adherent scales could be removed completely without bleeding. Examination of the mucous membranes, teeth, nails and hair showed normal findings.

Histopathological examination of four biopsy specimens showed psoriasiform epidermal hyperplasia, absence of the granular layer and a markedly thickened parakeratotic stratum corneum. In addition a sparse superficial perivascular infiltrate mainly composed of lymphocytes was present in the dermis.

Further pathological findings were asymmetry of the face caused by absence of the right M. levator angulis oris and Mm. zygomatici, shortening of the right leg, a faulty development of vertebrae in the craniocervical region mainly localized on the right side, and butterfly vertebra in the dorsal vertebra column as well as Morbus Scheuermann. An electrocardiogram showed hypertrophy of the right ventricle and investigation by a heart catheter showed a mild ventricular septal defect. The karyotype was normal 46, XX (further details see: [9]). After consideration of various differential diagnoses, a diagnosis of CHILD syndrome was established [9].

Both breasts demonstrated a marked juvenile symmetric hyperplasia. The skin changes involved the two lower quadrants and the upper abdominal skin (Fig. 1). The submammary folds were markedly affected and showed recurrent intertriginous infections. Repeated microbiological specimens revevealed Proteus vulgaris and Staphylococcus aureus within the CHILD nevus. The patient was particularly disturbed by the discomfort of a continuous, malodorous discharge from the submammary folds and asked for an improvement of the local situation by breast reduction. The plan was to perform an atypical resection of both lower bilateral quadrants with inclusion of the upper abdominal skin in order to remove the involved skin of these areas. Breast reduction was accomplished by a modified Strömbeck's technique. After undermining and mobilization of the abdominal skin a new submammary fold had to be defined. The involved skin of the midline had likewise to be resected, resulting in a crossing scar that could be partially hidden within the new submammary fold.

In spite of preoperative disinfectant local therapy, a prolonged wound healing and superficial infection occurred postoperatively, resulting in moderate hypertrophic scarring (Fig. 2).

The patient was very satisfied with this result and asked for resection of the remaining parts of the CHILD nevus. For this reason, the involved skin of both axillae was removed and replaced by split skin grafts obtained from the thigh. After an initial uncomplicated healing the grafted skin in the new location gradually developed features of the CHILD nevus (Fig. 2). This was confirmed histopathologically.

Discussion

In our patient resection of affected skin in the submammary area and simultaneous breast reduction proved to be effective, even after a follow-up period of 5 years. Full-thickness involved skin of both axillae was also removed and replaced by split skin grafts of the clinically unaffected thighs. However, in this location the skin lesions recurred after a short period of time.

Turner et al. reported on a 18-year-old woman with linear eczema present on her right leg since childhood [8]. They speculated that this woman's eczema represented localized atopic eczema reflecting a genetic mosaicism on a background of atopy. Excision of full skin and grafting with split skin resulted in healing of this region, whereas excision as split skin led only to transient relief. They speculated that the cutaneous abnormality following Blaschko's lines resides in the keratinocytes rather than in dermal tissue, a point supported by the recurrence of symptoms after split-skin excision, because the epidermis regenerated from remaining (abnormal) keratinocytes.

In our patient, full skin was excised. Hence, the recurrence of the ichthyosiform skin lesions cannot be explained by regeneration from remaining follicular keratinocytes.

In the present case we assume that an inappropriate choice of the donor site, albeit from clinically unaffected skin of the thighs, in which the X chromosome carrying the mutation was inadvertently the active one, led to the development of new skin lesions in the axillary region. Happle concluded that there are two principles that determine the distribution of the skin lesions in CHILD syndrome [2]. Firstly, lyonization that gives rise to areas predisposed to develop into an ichthyosiform nevus and secondly a local factor in the form of ptychotropism (affinity to body folds). Most likely, the particular anatomical site of the axillae enhanced the recurrence of the CHILD nevus.

CONCLUSION

We conclude that treating a mosaic genetic disease by autotransplantation is obviously a complex problem. To exclude the possibility of mosaic skin lesions after autotransplantation further extensive clinical as well as genetic studies are warranted.

Article accepted on 28/2/00

REFERENCES

1. Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980; 134: 27-33.

2. Happle R. Ptychotropism as a cutaneous feature of the CHILD syndrome. J Am Acad Dermatol 1990; 23: 763-6.

3. Baden HP, Rex IH. Linear ichthyosis associated with skeletal abnormalities: new entity. Arch Dermatol 1970; 102: 126-8.

4. Cullen SI, Harris DE, Carter CH, Reed WB. Congenital unilateral ichthyosiform erythroderma. Arch Dermatol 1969; 99: 724-9.

5. Shear CS, Nyhan WL, Frost P, Weinstein GD. Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. Birth Defects 1971; 7/8: 197-203.

6. Blaschko A. Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Wien Leipzig: Braumüller, 1901.

7. Rieger E, Kofler R, Borkenstein M, Schwingshandl J, Soyer HP, Kerl H. Melanotic macules following Blaschko's lines in McCune-Albright syndrome. Br J Dermatol 1994; 130: 215-20.

8. Turner RJ, Dahl MGC, Shuster S, Rees JL. Mosaic atopic eczema cured by autotransplantation? Lancet 1998; 352: 961.

9. Fink-Puches R, Soyer HP, Pierer G, Kerl H, Happle R. Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? J Am Acad Dermatol 1997; 36: 823-6.