Infantile myofibromatosis: two families supporting autosomal dominant inheritance

We present two families in whom infantile myofibromatosis affects two generations. The disease expression in these families suggests an autosomal dominant mode of inheritance. Clinical diagnosis and establishment of the inheritance pattern have important prognostic implications for the affected individual and family members and serves to guide subsequent genetic counselling.     

Infantile myofibromatosis with visceral involvement and complete spontaneous regression

Infantile myofibromatosis is an unusual mesenchymal disorder characterized by the proliferation of tumors in the skin, muscle, bone, and viscera. Two types can be distinguished; the solitary type, defined by the presence of one nodule in the skin, muscle, bone or subcutaneous tissue; and the multicentric type which can be divided into two sub-types. In the first sub-type the lesions are multicentric but without visceral involvement, while in the second, visceral involvement is present. The prognosis of the disease depends on whether visceral involvement is present. Solitary and multicentric nodules without visceral involvement usually have excellent prognosis with spontaneous regression of lesions within 1 to 2 years of diagnosis. On the other hand, visceral lesions are associated with a significant morbidity and mortality, resulting from vital organ obstruction, failure to thrive, or infection. Death in these cases often occurs at birth, or soon after, and is usually due to cardio-pulmonary or gastrointestinal complications. The case being reported here, is that of a female newborn who had multiple skin, subcutaneous tissue, skeletal muscle, bone, and lung lesions immediately after bith. At the age of three years, the child is in good health, her psychomotor development is in accordance with her age group, and the lesions have completely regressed. This is a case of the multicentic type of infantile myofibromatosis with visceral involvement, where all lesions have spontaneously regressed. This is a rarity since the prognosis in the majority of such cases is poor.     

Infantile myofibromatosis: a case report and review of the literature

Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative; however, visceral involvement may be fatal. We present a case of infantile myofibromatosis in a 1-year-old boy and review the literature.     

Infantile Myofibromatosis: Report of Two Cases

Two cases of solitary type infantile myofibromatosis (IM) were presented. Case 1 was a 6-month-old male infant with a firm, dark red, fixed tumor on his right knee. A computerized tomographic scan revealed that the tumor was attached to the underlying muscle. Case 2 was a 1-month-old male infant with a tumor on his right knee, similar to that in case 1. In neither case was there any clinical evidence of visceral involvement. Histological and immunohistochemical findings were similar. The lesions appeared histologically as non-encapsulated nodules composed of whorled fascicles of spindle-shaped cells and a vascular element with a hemangiopericytoma-like appearance. The tumor cells were positively stained with PTAH. They were positive for α-smooth muscle actin and vimentin, but negative for desmin. These findings support the myofibroblastic nature of IM. In case 2, the tumor regressed spontaneously at the age of 12 months. Unlike the multicentric form, spontaneous regression of the solitary form of IM has not previously been reported.     

婴儿指趾纤维瘤病一例

患儿,男,3个月。左手无名指指端伸侧红色结节1个月。皮肤科查体：左手无名指淡红色结节,表面光滑,触之质硬,活动性差。指无变性,无功能障碍。组织病理活检确诊为婴儿指趾纤维瘤病。     

Infantile perianal pyramidal protrusion: report of a case and review of the literature

Infantile perianal pyramidal protrusion is an important, relatively newly recognized condition, which is thought to be under-reported in the pediatric literature. Previous reports refer to these lesions as skin tags or skin folds. More recently, the name infantile perianal pyramidal protrusion has been suggested, based on the characteristic presentation of the lesion in prepubertal children, especially girls. Recognition of these lesions has many implications regarding proper diagnosis and management. They may easily be mistaken for condyloma accuminata or as a sign of trauma, leading to an investigation of sexual abuse. This situation may be avoided with awareness of this entity in combination with thorough history taking and a classic presentation. We present a classic presentation of infantile perianal pyramidal protrusion and further discuss this condition.     

以皮肤结节为显著表现的先天性白血病一例并文献复习

报道1例出生时以皮肤结节为显著表现的先天性白血病并文献复习.患儿,女,出生时即全身弥漫性多发大小不等紫红色结节;外周血示白细胞284.24×109/L,原始细胞90％;皮肤病理示真皮及脂肪层弥漫性密集分布大量非典型细胞,表皮未受累,免疫组化染色CD68、CD43阳性;骨髓穿刺示白细胞数明显增高,以原始和幼稚单核细胞为主...     

Infantile myofibromatosis: a cause of leg length discrepancy

An infant with self-healing, multifocal cutaneous infantile myofibromatosis with leg-length discrepancy as a sequela is reported. This condition should be suspected in infants with one or more firm or hard nodules in the skin, subcutaneous tissue, bone, muscle, or viscera. The histopathologic picture is diagnostic. Treatment and prognosis depend on the extension and location of the tumors.     

Infantile digital fibromatosis: A rare tumour of infancy. Report of five cases

Infantile digital fibromatosis (IDF) is a rare tumour of infancy with a typical clinical presentation and characteristic histopathological findings. Despite an alarming appearance, IDF does not cause deep infiltration or metastasis. The traditional approach of surgical resection was recently challenged by increasing evidence of self regression in months or years. We describe the clinical history of five patients with IDF that were followed in our departments for 5 years.     

Infantile hemangiopericytoma--case report and literature review

Infantile hemangiopericytoma is a rare soft tissue neoplasm of pericytic origin and is almost always benign, despite its worrisome pathologic features. We describe a 2-month-old male infant with a soft tissue mass on his right thigh. Histologically, the lesion showed a characteristic hemangiopericytoma-like vascular pattern, multilobulation, and moderate mitotic activity. These morphologic features were prediagnosed as infantile hemangiopericytoma. However, immunohistochemical and ultrastructural studies revealed a heterogeneous cellular composition, primarily pericytes and endothelial cells, similar to that observed in infantile myofibromatosis.     

Infantile myofibromatosis. Report of two cases in one family

Two brothers with infantile myofibromatosis are reported. Both had cutaneous and skeletal myofibromas with spontaneous and complete healing of their cutaneous lesions. These cases suggest autosomal recessive inheritance of this rare disorder.     

婴幼儿带状疱疹三例并文献复习

目的:分析婴幼儿带状疱疹的临床特点.方法:报道3例婴幼儿带状疱疹病例并对近10年文献报道病例进行回顾性分析.结果:共分析26例患儿,年龄74天～3岁,其中≤6个月患儿8例(30.8％);孕期或产后感染及接触VZV史12例(50％);患儿感染或接触VZV史7例(31.8％);伴有上呼吸道感染症状15例(60％);皮疹与成...     

甲母质瘤一例并文献复习

报道一例甲母质瘤并对相关文献进行复习。患者，男，54岁。右手食指指甲增厚、变黄10年。组织病理检查：甲板显著增厚，甲母质细胞V形增生，底端呈条索状伸向真皮，上端呈乳头瘤样伸向甲板，上覆嗜酸性角质增生带，部分乳头瘤顶端见渗出结痂。真皮浅层梭形细胞增生，排列杂乱，间有散在肥大细胞，深部纤维及纤维细胞增生，排列与表皮平行。免疫组化染色：梭形细胞CD34阳性，S-100阴性，FⅩIIIa阴性，CD68阴性，CK7阴性。诊断：甲母质瘤。手术切除肿瘤后随访10个月无复发。     

Pleomorphic sclerotic fibroma: a case report and literature review.

Pleomorphic sclerotic fibroma is a benign neoplasm exhibiting features of sclerotic fibroma and pleomorphic fibroma. We report another such case. The tumor presented as a firm, 0.5-cm, flesh-colored papule on the forehead of a 72-year-old white man for an unknown duration. Histologic examination revealed a neoplasm in which the superficial portion showed features of a pleomorphic fibroma, the deeper portion showed features of a sclerotic fibroma, and a transitional area was present in between. We propose that pleomorphic fibroma, sclerotic fibroma, and pleomorphic sclerotic fibroma form a spectrum. Pleomorphic sclerotic fibroma may be used as a broad diagnostic term to encompass the spectrum.     

Pure apocrine nevus: immunohistochemical study of a new case and literature review

Apocrine nevi are benign adnexal cutaneous hamartomas characterized by localized hyperplasia of mature apocrine sweat glands (ASG). Although ASG proliferation can be found in a number of acquired or congenital adnexal skin tumors, pure apocrine nevi are exceedingly rare. We present herein a new typical case of this tumor that was studied immunohistochemically, and review the relevant literature in order to delineate its clinicopathological features.     

Eccrine angiomatous hamartoma: report of a case and literature review.

Eccrine angiomatous hamartoma is a rare condition characterized histologically by increased numbers of eccrine structures and numerous capillary channels. Patients characteristically have a solitary, congenital nodule that may be painful and that may show hyperhidrosis. It is important to recognize this condition because it is a benign lesion for which aggressive treatment is not indicated. We report the case of a congenital eccrine angiomatous hamartoma that had a firm nodule studded with blue papules.