Casos para el diagnóstico
Unusual Presentation of a Fibrolipomatous Hamartoma
Hamartoma fibrolipomatoso: descripción de una forma atípica de presentación
E. García Verdú
, A. Rodríguez-Villa Lario, I. Polo Rodríguez
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Servicio de Dermatología, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Madrid, Spain
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A. Coloración eritematoviolácea de la piel suprayacente del nódulo más distal de los presentados en la cara lateral del dorso del pie derecho, coincidiendo con procesos infecciosos respiratorios o episodios febriles. B. Tres nódulos subcutáneos de entre 1,5 y 4<span class="elsevierStyleHsp" style=""></span>cm, de disposición lineal en la cara lateral del dorso del pie derecho con consistencia elástica, no adheridos a planos profundos y sin componente epidérmico.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. García Verdú, A. Rodríguez-Villa Lario, I. Polo-Rodríguez" "autores" => array:3 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "García Verdú" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Rodríguez-Villa Lario" ] 2 => array:2 [ "nombre" => "I." 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"apellidos" => "García Verdú" "email" => array:1 [ 0 => "elenuskigv7@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Rodríguez-Villa Lario" ] 2 => array:2 [ "nombre" => "I." "apellidos" => "Polo Rodríguez" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Madrid, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hamartoma fibrolipomatoso: descripción de una forma atípica de presentación" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 257 "Ancho" => 904 "Tamanyo" => 28976 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical photography. <span class="elsevierStyleBold">A.</span> Erythematous-violet discoloration of the skin overlying the most distal nodule on the lateral side of the right dorsum of the foot consistent with respiratory infectious processes, or febrile episodes<span class="elsevierStyleBold">. B.</span> Three 1.5<span class="elsevierStyleHsp" style=""></span>cm to 4<span class="elsevierStyleHsp" style=""></span>cm subcutaneous nodules linearly arranged on the lateral side of the right dorsum of the foot, with elastic consistency, unattached to the deep planes, and without epidermal components.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical history</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 4-year-old child, with no remarkable personal or family history was examined due to the presence of skin lesions on the lateral region of his right foot. These lesions were asymptomatic, had been present since birth, and had grown progressively proportionally to the patient's age. The parents had witnessed episodes of skin discoloration of the more distal lesion, along with the occurrence of respiratory tract infections or febrile episodes, during which no significant analytical findings were found (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Three 1.5<span class="elsevierStyleHsp" style=""></span>cm to 4<span class="elsevierStyleHsp" style=""></span>cm subcutaneous nodules were found arranged linearly on the lateral side of the right dorsum of the foot. They had an elastic consistency, were not attached to the deep planes, painless, and had no epidermal component (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B).</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Ultrasound study</span><p id="par0015" class="elsevierStylePara elsevierViewall">After an ultrasound study with a 22<span class="elsevierStyleHsp" style=""></span>Hz probe, small thickenings of the subcutaneous cellular tissue were seen, partially defined, superficial, without invasion of deep planes, or notable findings on the color Doppler ultrasound (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Histopathology</span><p id="par0020" class="elsevierStylePara elsevierViewall">The histopathology of a punch biopsy of the distal nodule revealed the presence of unencapsulated, multiple islands of mature adipose tissue located among the collagen bundles and surrounded by sweat glands, in the mid and deep dermis (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>A), along with proliferation of non-lymphatic dilated vessels (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>B), (podoplanin-negative [<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>C]).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">What is your diagnosis?</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Fibrolipomatous hamartoma.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Diagnostic-therapeutic approach</span><p id="par0035" class="elsevierStylePara elsevierViewall">The diagnosis achieved was congenital fibrolipomatous hamartoma. The benign nature of the condition was explained to the parents, and conservative management was advised.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Comment</span><p id="par0040" class="elsevierStylePara elsevierViewall">Precalcaneal congenital fibrolipomatous hamartoma was initially described as “pedal papules of newborn” back in 1990 by Larralde et al.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a>. This entity can be found in the medical literature available with different nomenclatures such as piezogenic adult papules, benign anteromedial plantar nodules of childhood, and hypertrophic infantile pedal papules, among others), and in recent years, atypical presentations have been described.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Fibrolipomatous hamartoma is a rare benign condition that appears at birth, or within the first few weeks of life. Although its exact pathophysiology is still unknown, the incomplete regression of fetal trabecular fibroconnective tissue, herniation of fatty tissue through defects in the plantar fascia, and congenital changes to the trabecular framework of adipose fibroconnective tissue have been suggested, as well as a certain association with genetic defects.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">It often presents as painless, non-pruritic bilateral solitary symmetrical nodules, with normal skin color, averaging 1<span class="elsevierStyleHsp" style=""></span>cm in size and it usually appears on the medial plantar region of the heels.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> However, unilateral, retrocalcaneal, mandibular, and nasal cases have been reported.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> In this article, we describe some uncommon clinical signs such as multiple unilateral nodules on the dorsum of the foot associated with intermittent indolent erythematous-violet changes consistent with infections and febrile processes.</p><p id="par0055" class="elsevierStylePara elsevierViewall">The diagnosis is clinical, although the ultrasound can be used for differential diagnosis (lipoma, neurofibroma, infantile and congenital hemangioma, and vascular malformation).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Histopathological examination can be useful for the management of unilateral or indurated cases with inflammatory traits to rule out entities such as neonatal cystoesteatonecrosis, fibromatous tumors, or sarcomas.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> In our case, the histopathological and ultrasound findings made are consistent with the description found in the medical literature currently available.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,3,4,6</span></a> The increased number of blood vessels, without perivascular changes, could be involved in the skin bruising associated with the lesions we’re describing.</p><p id="par0060" class="elsevierStylePara elsevierViewall">In its evolution, these lesions often increase in size progressively with the child's growth. Due to the absence of symptoms and organ repercussions, their benign course, and the possibility of spontaneous regression in some cases, the best approach is clinical observation. Surgical excision is only considered if lesions persist, become symptomatic, or result in functional consequences or gait disturbances.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,3,5</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">In conclusion, we described a case of this likely underreported entity with atypical signs regarding the number (multiple), symmetry (unilateral), location (dorsum of the foot), and changes of appearance during infections and febrile events. The number of cases described in the medical literature available should increase to better characterize the pathophysiology and natural evolution of this condition.</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical history" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Ultrasound study" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Histopathology" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Diagnosis" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Diagnostic-therapeutic approach" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Comment" ] 7 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflicts of interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 257 "Ancho" => 904 "Tamanyo" => 28976 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical photography. <span class="elsevierStyleBold">A.</span> Erythematous-violet discoloration of the skin overlying the most distal nodule on the lateral side of the right dorsum of the foot consistent with respiratory infectious processes, or febrile episodes<span class="elsevierStyleBold">. B.</span> Three 1.5<span class="elsevierStyleHsp" style=""></span>cm to 4<span class="elsevierStyleHsp" style=""></span>cm subcutaneous nodules linearly arranged on the lateral side of the right dorsum of the foot, with elastic consistency, unattached to the deep planes, and without epidermal components.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 534 "Ancho" => 501 "Tamanyo" => 27658 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Ultrasound image. Small thickenings of subcutaneous cellular tissue, partially defined, without deep involvement. No pathological vascular structures or well-demarcated vascular enhancement foci.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 399 "Ancho" => 901 "Tamanyo" => 127085 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Pathological anatomy of a 4<span class="elsevierStyleHsp" style=""></span>mm punch biopsy of the most distal nodule. <span class="elsevierStyleBold">A.</span> Hematoxylin-eosin staining, ×10. Multiple unencapsulated islands of mature adipose tissue located among the collagen bundles and surrounded by sweat glands in the mid and deep dermis. <span class="elsevierStyleBold">B.</span> Hematoxylin-eosin staining, ×40. Presence of dilated vessels in the superficial dermis. <span class="elsevierStyleBold">C.</span> Immunohistochemistry with podoplanin (D 2-40), ×40. Negativity for cytoplasmic podoplanin, ruling out the lymphatic nature of the nodules.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Precalcaneal congenital fibrolipomatous hamartoma" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "C. Rubio-Flores" 1 => "O. Lopez-Barrantes Gonzalez" 2 => "C. Garrido-Gutierrez" 3 => "R.M. Diaz-Diaz" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.ad.2011.11.010" "Revista" => array:6 [ "tituloSerie" => "Actas Dermosifiliogr" "fecha" => "2012" "volumen" => "103" "paginaInicial" => "651" "paginaFinal" => "653" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22652503" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cutaneous fibrolipomatous hamartoma: Report of 2 cases with retrocalcaneal location" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "A.I. Rodriguez Bandera" 1 => "D.K. Saylor" 2 => "M.J. Beato" 3 => "J. North" 4 => "I.J. 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