Giant congenital neuroid melanocytic nevus

A patient with a variety of nevus cell nevi, a congenital giant melanocytic nevus, abnormal facies, vascular anomaly of the leg, and mental retardation was examined. The patient also had neuroid elements within the giant nevus that led to the consideration of neurofibromatosis. Because neurofibromatosis is a genetically determined condition with tissue different from the neuroid elements seen in giant nevi, the two conditions are considered to be different entities. Malignant transformation of congenital giant pigmented nevi occurs, although the incidence of such transformation remains a subject of controversy.     

Mal perforans and spina bifida occulta.

A 26-year-old man had mal perforans pedis as the principal manifestation of spina bifida occulta with an associated intradural lipoma. Two lumbosacral dimples and a tuft of hair overlying the spina bifida led to the diagnosis. We include a review of the causes of mal perforans and a review of spina bifida occulta and associated abnormalities.     

Tuberous sclerosis and spina bifida occulta.

An interesting occurrence of tuberous sclerosis and spina bifida occulta is described, highlighting their unique and previously undescribed association in a 5-year-old boy.     

Giant congenital melanocytic nevus with underlying hypoplasia of the subcutaneous fat

A 17-week-old boy with a giant congenital melanocytic nevus (GCMN) of the left lower extremity was noted to have a reduction in circumference of the left lower extremity relative to the contralateral side. The skin overlying the GCMN was persistently warm when compared with the surrounding and contralateral skin. Comparative plain radiography, ultrasonography, and magnetic resonance imaging showed fat hypoplasia of the left lower extremity, with bone and muscle appearing unaffected. The possible role of cytokines produced by the nevus in fat hypoplasia in GCMN is discussed.     

Periorbital congenital melanocytic nevus associated with ankyloblepharon

We report periorbital congenital melanocytic nevus associated with ankyloblepharon in a 2-month-old boy. This unusual presentation may be explained by the assumption that the development of the congenital melanocytic nevus (CMN) in utero was related to the failure of normal eyelid separation, which occurs around the 20th week of gestation.     

Multiple congenital melanocytic naevi presenting with neurofibroma-like lesions complicated by malignant melanoma

Giant congenital pigmented naevi and neurofibromatosis (NF-1) may rarely occur together. We report an unusual case where extensive congenital melanocytic naevi were associated with neurofibroma-like lesions that were clinically and histologically confused with neurofibromatosis. The development of malignant melanomas within the pigmented and pendulous lesions representing multiple congenital melanocytic naevi highlights the importance of an accurate diagnosis and a close follow-up of such patients.     

Giant congenital melanocytic nevus with a large ulceration at birth: a 5-year follow-up

Giant congenital melanocytic nevus (GCMN) is a rare birthmark that places patients at an increased lifetime risk of malignant melanoma. Herein, we describe an unusual case of GCMN that was followed up from birth until 5 years of age. A white girl was born, after an uncomplicated gestation, with a large cutaneous ulceration that extended over her entire back and laterally toward the anterior aspect of her trunk to involve the chest symmetrically. Biopsy specimens from several sites indicated GCMN that was centrally ulcerated. The patient was followed up closely, and the denuded area of skin was allowed to heal by secondary intention. By 19 months of age, the ulceration had healed completely. By 5 years of age, the nevus had lightened significantly and the scar tissue within the nevus had softened. The patient developed normally, meeting all milestones. Clinical and histologic examination did not reveal any signs of malignant transformation. The case we describe here delineates an approach to the long-term management of GCMN complicated by a large ulceration.     

先天性色素痣合并白癜风2例

报告2例白癜风合并先天性色素痣。例1的初发白斑在左上肢先天性毛痣周围,表现为晕痣,1个月后身体其他部位出现多发白斑;例2为节段型白癜风患者,除了在身体其他部位出现白斑外,在右足背先天性色素痣周围出现白斑,表现为痣周围白癜风。白癜风合并先天性色素痣这一现象值得进一步研究。     

Spontaneous regression of a congenital melanocytic nevus

Congenital melanocytic nevus (CMN) may rarely regress which may also be associated with a halo or vitiligo. We describe a 10-year-old girl who presented with CMN on the left leg since birth, which recently started to regress spontaneously with associated depigmentation in the lesion and at a distant site. Dermoscopy performed at different sites of the regressing lesion demonstrated loss of epidermal pigments first followed by loss of dermal pigments. Histopathology and Masson-Fontana stain demonstrated lymphocytic infiltration and loss of pigment production in the regressing area. Immunohistochemistry staining (S100 and HMB-45), however, showed that nevus cells were present in the regressing areas.     

隐性脊柱裂引起先天性局限性多毛症1例

患者女性,13岁,因腰骶部长有黑色长毛13年就诊。临床见从腰5至骶1约8cm×10cm区域束状毛发,色黑,质软,长约为20cm,X光示腰5及骶椎板骨质不连接,见宽大纵形裂隙。诊断为隐性脊柱裂。     

Dermoscopy of an acral congenital melanocytic nevus

Congenital melanocytic nevi carry a risk for malignant transformation into melanoma, therefore early detection of suspicious features is crucial to reduce mortality rates. Dermoscopy improves the early detection of melanoma while reducing the number of unnecessary excisions of benign pigmented skin lesions. Dermoscopically, congenital melanocytic nevi are often characterized by the presence of a cobblestone pattern, but to date, little is known about the dermoscopic features of acral congenital melanocytic nevi. We report an acral congenital melanocytic nevus typified by the presence of three different dermoscopic patterns that are commonly seen in acquired melanocytic nevi of palms and soles.     

Giant congenital melanocytic nevus

Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.     

Rhabdomyosarcoma arising in a congenital melanocytic nevus.

A variety of malignancies have been reported to arise within congenital melanocytic nevi, most commonly malignant melanoma, but rarely rhabdomyosarcoma, liposarcoma, and malignant peripheral nerve sheath tumor as well. There have been only three documented cases of rhabdomyosarcoma arising within congenital melanocytic nevi: two embryonal rhabdomyosarcomas and one mixed liposarcoma and rhabdomyosarcoma. One of these cases was also associated with neurocutaneous melanosis. We report a fourth case of rhabdomyosarcoma originating from a congenital melanocytic nevus. A 4-year-old girl presented with a large ulcerated nodule that developed within a hairy congenital nevus on her left gluteal and sacral regions. Her parents refused postoperative adjuvant therapy, and she died 13 months after surgical excision. Histologic sections showed a lesion with two distinct components. There was an expansile proliferation of pleomorphic cells within a fibromyxoid stroma. The neoplastic cells were spindled, and some had abundant eosinophilic globular cytoplasm with occasional cross-striations characteristic of rhabdomyoblasts. They strongly expressed desmin and myoglobin and were negative for S-100 protein and HMB-45. The tumor merged with an adjacent congenital melanocytic nevus characterized by a proliferation of uniform nonatypical melanocytes. The finding of both rhabdomyoblastic and melanocytic differentiation within the same lesion lends support to the hypothesis of their derivation from common pluripotential stem cells or neural crest cells.     

Molluscum contagiosum arising in a melanocytic congenital nevus

Molluscum contagiosum within a congenital melanocytic nevus has rarely been reported. We report a 6‐year‐old child with molluscum contagiosum infection arising within an intermediate melanocytic congenital nevus of the thigh, associated with itching and occasional bleeding. Dermoscopy lead to the correct diagnosis, but histologic confirmation with shave biopsy was performed to reassure the parents and allow mechanical removal of the lesions using curettage.     

Rhabdomyosarcoma arising in a giant congenital melanocytic nevus

We report the case of a 6-week-old girl who presented with a pedunculated embryonal rhabdomyosarcoma arising in a giant congenital melanocytic nevus (GCMN) on her lower back. There was no associated leptomeningeal involvement. The patient underwent surgical resection of the rhabdomyosarcoma at age 2 months, with subsequent chemotherapy consisting of actinomycin D and vincristine. No recurrences or metastases of tumor have been noted at 5 months of age.     

Spina bifida occulta with atrophy of toes

A case of lumbosacral spina bifida occulta presented with resorption of toes which started at six years of age. Its differential diagnosis with neural leprosy is discussed.     

Proliferative nodules with balloon-cell change in a large congenital melanocytic nevus

The balloon-cell nevus was first described over 100 years ago. Since then, balloon-cell changes of melanocytes have been noted in numerous tumors, including melanoma, blue nevus, and Spitz nevus. Whether these changes reflect cellular deterioration or proliferative changes is a matter of debate. We report a case in which balloon-cell changes were found within proliferative nodules occurring in a large congenital melanocytic nevus.     

A distinctive type of widespread congenital melanocytic nevus with large nodules

We report an unusual case of congenital melanocytic nevus presenting in a 19-year-old African woman as widespread papules and variably sized nodules and tumors affecting the entire body, including the palms, soles, and oral mucous membrane. Histopathologic examination of 3 representative skin lesions showed mainly dermal aggregations of round to oval, focally pigmented, monomorphous melanocytes, arranged in nodular and plexiform patterns. Scattered areas with spindle-shaped dendritic melanocytes surrounded by fibrosis were also noted in the center of the lesions. The clinical and histopathologic findings were similar to those in 2 other previously reported cases, except that in 1 of the earlier cases the skin nodules were composed of spindle-shaped cells, suggesting a type of blue nevus. The findings in our case indicate a broader spectrum of morphologic features in this condition, with dermal aggregations of melanocytes showing congenital features, representing a common histopathologic denominator. Based on this observation, we suggest the term "widespread congenital dermal nevus with large nodules" to be the most appropriate for this rare, but distinctive, type of congenital nevus.