Hamartoma fibroso de la infancia umbilical: reporte de un caso / Umbilical fibrous hamartoma of infancy: a case report

Resumen: Introducción: el hamartoma fibroso de la infancia (HFI) es un tumor benigno de partes blandas que se presenta generalmente en población infantil y que posee una morfología histológica característica. Objetivo: describir un caso de HFI congénito de características clínicas e histológicas atípicas. Caso Clínico: recién nacido de término, sexo masculino, sin antecedentes mórbidos perinatales, es deriva do a dermatología por placa eritematosa congénita en región umbilical. Estudio histológico evidenció proliferación fusocelular en dermis e hipodermis, de morfología bifásica, con un patrón arremolina do infiltrante y otro de bandas de células fusadas con hábitos fibroblásticos y miofibroblásticos, aso ciada en profundidad a un componente de tejido adiposo maduro. El estudio inmunohistoquímico mostró positividad difusa a CD34 y focalmente para FXIIIa, con ausencia de inmunoreactividad a ac- tina, desmina, MyoD1, S100, HMB45, Melan A y EMA. Fluorescent in situ hybridization (FISH) para platelet-derived growth factor beta (PDGF beta) y para el gen ETV6 negativos, presentes en el dermatofibrosarcoma protuberans congénito y fibrosarcoma infantil, respectivamente. Estos antecedentes, sumado a los hallazgos histológicos previos, apoyaron el diagnóstico de HFI. Se realizó extirpación quirúrgica, sin signos de recidiva durante el seguimiento clínico. Conclusión: es importante consi derar el HFI dentro del diagnóstico diferencial de tumores subcutáneos infantiles, principalmente en población menor de 2 años. Si bien su comportamiento es benigno, presenta similitud con múltiples lesiones benignas y malignas, lo que hace imperativo realizar un estudio histológico exhaustivo ante lesiones clínicas sospechosas.

Abstract: Introduction: Fibrous hamartoma of infancy (FHI) is a benign, soft tissue tumor that usually oc curs in children and has a characteristic histological morphology. Objective: To describe a case of congenital FHI with atypical histological and clinical characteristics. Clinical case: Full-term male newborn, with no perinatal morbid history was referred to dermatology due to a congenital erythe matous plaque in the umbilical region. The histological study showed a fusocelullar proliferation in dermis and hypodermis of biphasic distribution, with an infiltrative, swirling pattern and bundles of spindle fibroblast-like and myofibroblast-like cells, associated in depth with a mature adipose tissue component. The immunohistochemical study revealed diffuse positivity for CD34, and focal posi tivity for FXIIIa, without immunoreactivity for actin, desmin, MyoD1, S100, HMB45, Melan-A, or EMA. Fluorescent in situ hybridization (FISH) was negative for platelet-derived growth factor recep tor beta (PDGFR-beta) and for ETV6 gene. PDGFR-beta and ETV6 gene are present in congenital dermatofibrosarcoma protuberans and infantile fibrosarcoma, respectively. This history, in addition to previous histological findings, supported the diagnosis of FHI. Surgical resection was performed, without signs of recurrence during clinical follow-up. Conclusion: It is important to consider the FHI within the differential diagnosis of subcutaneous tumors in children, especially in those under two years of age. Although its behavior is benign, it is similar to multiple benign and malignant le sions, which makes it imperative to perform a histological study in front of suspicious clinical lesions.

The First Reported Case of Fibrous Hamartoma of Infancy with Hyperhidrosis and Hypertrichosis in Korea

Fibrous hamartoma of infancy (FHI) is a rare entity with a benign nature. The typical clinical features are a single, slowly growing, painless mass on the trunk that appears within the first 2 years of life. We report a 13-month-old boy who presented with a plaque on the lower back since 4 months of age. The plaque had gradually become larger and firm, and hyperhidrosis and hypertrichosis were noticed. No visible connection between the spinal cord and the lesion was found in radiologic studies, indicating a disease other than spinal dysraphism. Histopathological findings showed well-defined fibrous trabeculae, mature adipose tissue, and primitive mesenchymal cells, all consistent with FHI. This is the first case of FHI presenting with hyperhidrosis and hypertrichosis reported in Korea.

CT and MRI features of fibrous hamartoma of infancy:Comparison with histopathology / 中国医学影像技术

Objective To discuss CT,MRI features of fibrous hamartoma of infancy (FHI) compared with pathology.Methyls Cinical data,CT and MRI findings,as well as pathological results of 15 patients with FHI were retrospectively analyzed.Results Totally,there were 17 lesions of FHI in 15 cases,including 13 cases with single lesion and 2 cases with double lesions.The lesions manifesting as subcutaneous-,skin-and mixed-type on CT or MR images accounted for 58.82％ (10/17),17.65％ (3/17) and 23.53％ (4/17),respectively.The subcutaneous-and mixed-type lesions showed " cloud sign" (including "thin-cloud sign" and "thick-cloud sign").The thin-cloud sign lesions composed mainly of mature adipose tissue,while the triphasic composition ratio of adipose,fibrous and primitive mesenchymal cells were relatively consistent in the lesions with thick-cloud sign.The skin-type lesions showed "mountain-inverted sign",which composed mainly of immature mesenchymal component.Conclusion CT and MRI features of FHI are complex,yet have certain characteristics,which can preferably reflect the histopathological features of FHI.

Hamartoma fibroso infantil – tumor raro em crianças / Fibrous hamartoma of infancy: a rare tumor in children

O Hamartoma Fibroso Infantil (HFI) é um tumor raro de característica benigna com representação histológica trifásica própria. Acomete tipicamente crianças de até 2 anos, predominantemente do sexo masculino. Apresenta usualmente diâmetro menor de 5 cm, ocorrendo classicamente em áreas como a parede torácica, braços, axilas e região inguinal, porém já foram descritos acometimentos de estruturas genitais, cabeça, pescoço e estruturas distais. Em sua avaliação, patologias como fibrolipoma, lipoblastoma, fibrosarcoma e rabdomiosarcoma devem sempre ser consideradas como diagnóstico diferencial. Atualmente, em sua abordagem, exames de imagem como ultrassonografia e ressonância nuclear magnética vem tornando-se importantes ferramentas no processo investigativo e preparatório à terapêutica empregada, que baseia-se na excisão da lesão. Apresentamos a seguir um relato de caso de criança com 4 meses de idade com lesão expansiva em braço esquerdo diagnosticada como HFI após investigação, excisão e análise histopatológica.

Fibrous hamartoma of infancy (FHI) is a rare, benign tumor with a characteristic three-phase histological pattern. It typically affects children up to two years of age, predominantly male. It is usually smaller than 5 cm in diameter, occurring classically in areas such as the chest wall, arms, underarms and groin, but it may as well affect genital structures, head, neck and distal structures. In its evaluation, disorders like fibrolipoma, lipoblastoma, fibrosarcoma and rhabdomyosarcoma should always be considered as a differential diagnosis. Currently, in its approach, imaging tests such as ultrasound and magnetic resonance imaging have become important tools in the investigative and preparatory process for the treatment to be used, which is based on excision of the lesion. The following is a case report of a 4-month old with an expansive lesion in the left arm diagnosed as FHI after investigation, excision and histopathology.

Protruding Type of Fibrous Hamartoma of Infancy / 대한피부과학회지

Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue tumor that is composed of an organoid pattern of fibrous tissue and primitive mesenchyme and adipose tissue. The majority of cases of fibrous hamartoma of infancy occur within the first year of life as a single painless subcutaneous nodule. We experienced and report on an uncommon case of protruding fibrous hamartoma of infancy in an 1-year-old girl.

Protruding Type of Fibrous Hamartoma of Infancy / 대한피부과학회지

Fibrous hamartoma of infancy (FHI) is a rare benign soft tissue tumor that is composed of an organoid pattern of fibrous tissue and primitive mesenchyme and adipose tissue. The majority of cases of fibrous hamartoma of infancy occur within the first year of life as a single painless subcutaneous nodule. We experienced and report on an uncommon case of protruding fibrous hamartoma of infancy in an 1-year-old girl.

Hamartoma fibroso de la infancia: informe de un caso / Fibrous hamartoma of infancy: case report

Introducción: El hamartoma fibroso de la infancia es una proliferación benigna de los tejidos blandos, de presentación infrecuente; 91 % de los casos ocurre durante el primer año de edad y afecta más frecuentemente al sexo masculino. Se caracteriza por ser una lesión subcutánea de morfología característica con patrón de crecimiento organoide trifásico. Caso clínico: Lactante masculino de seis meses de edad, con tumor en la región plantar medial del pie izquierdo, el cual fue resecado completamente. En el estudio histopatológico se informó como hamartoma fibroso de la infancia. Conclusiones: Puede localizarse en cualquier sitio anatómico, aunque 5 a 10 % afecta las extremidades inferiores existen pocos casos informados en el pie. En biopsias pequeñas es importante su diagnóstico diferencial con otras lesiones fibroadiposas para el adecuado tratamiento. La resección quirúrgica amplia con márgenes libres de lesión confiere un buen pronóstico a los pacientes.

BACKGROUND: Fibrous hamartoma of infancy (FHI) is an infrequent benign proliferation of the soft tissues. Ninety one percent of cases occur during the first year of life. FHI is characterized as a subcutaneous lesion with characteristic morphology with a triphasic organoid growth pattern. CLINICAL CASE: We present the case of a 6-month-old male infant with a tumor in the medial plantar region of the left foot, which was completely withered. Histopathological study reported a fibrous hamartoma of infancy. CONCLUSIONS: Fibrous hamartoma of infancy most frequently affects males. It may be localized at any anatomic site, although 5-10% of cases affect the lower limbs. Few cases are reported in the foot. This is a lesion with a characteristic morphological pattern; however, in small biopsies, its differential diagnosis is important with other fibroadipose lesions for appropriate treatment. Ample surgical resection with lesion-free borders confers a good prognosis for these patients.

A Case of Fibrous Hamartoma of Infancy with Hypertrichosis on the Axilla / 대한피부과학회지

Fibrous hamartoma of infancy is a rare benign lesion that presents as a solitary, painless, flesh-colored, subcutaneous mass. Most of these lesions occur in the axillary region, the upper arm, the upper trunk, the inguinal area and the external genital area. The lesion histologically consists of three different components in varying proportions: well-defined fibrous trabeculae, primitive mesenchyme and, mature adipose tissue. Overlying skin changes are uncommon, including alternations in pigmentation, eccrine gland hyperplasia and increased hair. To the best of our knowledge, only 6 cases of fibrous hamartoma of infancy with hypertrichosis have been reported. In these six cases, the lesions were located on the buttocks and back, which were non-predilection sites. We report the first case of fibrous hamartoma of infancy with hypertrichosis on the axilla, which is known as a predilection site.

Radiologic Features of Fibrous Hamartoma of Infancy Involving the Buttocks

Fibrous hamartoma of infancy (FHI) is a rare benign subcutaneous tumor that presents in children younger than two years. The tumor mostly affects the trunk, axilla and upper extremities. Imaging findings of FHI that involve the buttocks have not been reported in the clinical literature. We reported the imaging features of a lesion in a 9-month-old infant who presented with a palpable mass on the buttocks. The imaging findings were evaluated after a review of previous studies.

A Fibrous Hamartoma of Infancy with Overlying Hypertrichosis / 대한피부과학회지

Fibrous hamartoma of infancy (FHI) is a rare benign lesion occurring in the first 2 years of life, particularly in males. Most lesions present as a painless subcutaneous mass. Although the lesion is not distinctive clinically, it has a characteristic microscopic appearance. The lesion histologically consists of three different tissue elements: disorderly collagenous fibrous tissue, myxoid mesenchymal tissue and islands of mature adipocytes. A few cases have overlying skin changes, including alteration in pigmentation, eccrine gland hyperplasia, and increased hair. A 6-month-old male infant had a 6x4 cm sized asymptomatic mass on the right lower back. Multiple coarse hairs were present on the surface. Histopathologic findings showed the typical features of FHI, that is well defined intersecting fibrous trabeculae, small immature cells within loosely textured areas, and mature adipose areas in the lower dermis and subcutaneous layer. Immunohistochemically, vimentin was present in both the trabecular and loosely textured areas, but desmin was not present in any of the components. We report a case of FHI on the right lower back with overlying hypertrichosis in a 6-month-old male patient.

A Case of Fibrous Hamartoma of Infancy in an Adult / 대한피부과학회지

Very rare and unique tumors of infants, fibrous hamartomas were first described by Reye in 1956 as a subdermal fibromatous tumor of infancy. The tumors can occur at birth and are usually diagnosed within the first 2 years of life. The oldest patient reported in the literature was an 11-year-old child. The common sites of involvement are the axillae, upper arms, and upper trunk. Although the lesion is not distinctive clinically, it has a characteristic microscopic appearance of fibrous tissue forming trabeculae, small, round cells that represent primitive mesenchyme, and mature adipose tissue. Herein, we report a case of fibrous hamartoma of infancy in a 26-year-old man, on the uncommon site of a lower extremity.

Fibrous Hamartoma of Infancy(FHI) Developed in Trunk

Fibrous hamartomas of infancy(FHI) are rare, benign, fibroproliferative tumors which usually present in the first 2 years of life. They arise from the subcutanous tissue and usually appear as a single tumor in the axilla, shoulder, groin, digit, vulva, extremities, and trunk. Because of their pathologic findings, high degree of cellularity and the presence of immature cells, they can be erroneously diagnosed as malignant tumor and can lead to overtreatment of these benign disorder. This can be avoided by an awareness of the clinical and histologic characteristics of fibrous hamartomas of infancy. The authors present one case of fibrous hamartoma of infancy developed in the trunk of extensively large size which was successfully removed.

A Case Report: Fibrous Hamartoma of Infancy in the Buttock

Fibrous hamartoma of infancy is an uncommon, benign, subcutaneous fibrous proliferation and usually found during the first 2 years of life, presenting non- tender, hard and movable soft-tissue mass. This tumor can cause much concern about malignancy because it may be fixed in the underlying tissue and is composed of poorly differentiated mesenchymal cells. The diagnosis is made easily by the characteristic histologic features, treatment is local excision and the prognosis is excellent. Because misdiagnosis of malignancy can lead to unnecessary radical therapy, both surgeon and pathologist must be aware of this entity. We experienced and report a case of a 11 month-old male patient who had a 10x15 cm sized hard, fixed and non-tender mass on the right buttock that manifested characteristic pathology of this disease. We excised the mass widely with safety margin of 1 cm and no recurrence was reported in 12 months.

A Case of Fibrous Hamartoma of Infancy with Overlying Hypertrichosis / 대한피부과학회지

Fibrous hamartoma of infancy is an uncommon benign soft tissue tumor, characterized by three different tissue components histologically; 1)intersecting trabeculae of fibrous tissue, 2)immature cells with mucoid matrix, and 3)mature fat. The majority of fibrous hamartoma of infancy occur within the first year of life as a painless nodule and a few cases have overlying skin changes, including alteration in pigmentaion, eccrine gland hyperplasia and increased hair. We report a case of fibrous hamartoma of infancy on the buttock with overlying hypertrichosis in an 8-month-old male patient.

A Case of Fibrous Hamartoma of Infancy / 대한피부과학회지

Fibrous hamartoma of infancy (FHI) is an uncommon benign fibrous proliferation, usually presenting as a single nodule. A 17-month-old male patient had an asymptomatic fingertip-sized subcutaneous nodule on the right side of the back for 6 month. Histopathologic findings showed the typical feature of FHI, that is well defined intersecting fibrous trabeculae, small immature cells within loosely textured areas, and mature adipose areas in the lower dermis and subcutaneous layer. Immunohistochemically, vimentin positivity was present in both the trabecular and loosely textured areas, but desmin was not present in any components which is positive usually only in trabecular areas. The lesion was excised without recurrence. We experienced and report an uncommon case of fibrous hamartoma of infancy in a 17-month-old male patient.

A Case of Fibrous Hamartoma of Infancy

Fibrous hamartoma of infancy (FHI) is an uncommon, benign, solitary intradermal or subcutaneous tumor. It occurs typically in the axillary or shoulder region. The histopathologic examination of affected lesion shows the characteristic elements: dense fibrous tissue, adipose tissue, and primitive mesenchymal tissues. A 15 month-old girl had the multiple, asymptomatic, discrete, and skin-colored tumors that scattered on the scalp. These were present at birth. We report a rare case of FHI occurred on the scalp with multiple and congenital characteristics.

A Case of Fibrous Hamartoma of Infancy in the Prepubic Area / 대한비뇨기과학회지

Fibrous hamartoma of infancy in the genital region is a rare benign fibroproliferative disease typically arising from subcutaneous tissue, particulary in males during the first two years of life. It has a typical histopathologic findings which consists of mature fat cell, immature mesenchymal cell and fibrocollagenous band. It is benign in nature which mostly is cured by local excision and rarely recur. We report a case of fibrous hamartoma of infancy in the prepubic area with its sonographic finding and review of the literature.

Fibrous hamartoma of infancy manifested as multiple nodules: a case report

Fibrous hamartoma of infancy is an uncommon benign fibrous proliferation, usually presenting as a solitary nodule. A rare example of multiple fibrous hamartoma of infancy is described. Two masses which developed in the upper arm of a 10-month-old boy were successfully excised, and one month later three small nodules 2 cm below the previous operation field appeared. It will be further elucidated whether multiple forms and early recurrence are related or not as cases accumulate.

Fibrous Hamartoma of Infancy : Report of A Case / 대한피부과학회지

We report a case of fibrous hamartoma of infancy in a 7-month-old male infant, in which a solitary, asymptomatic, walnut-sized, nomal skin-colored plaque occurred on the left middle back for about one month. Histopathologic findings showed the distinctive features of fibrous hamartoma of infancy, ie, trabeculae of dense collagenous tissue, whorls of immature spindle cells within a mucoid matrix, and interspersed mature adipose tissue, in the lower dermis. The lesion was excised without recurrence.