Cutaneous mastocytosis, presentation of three cases
Mastocytosis is a rare disorder characterized by neoplastic clonal proliferation of mast cells in one or more tissues, with cutaneous and/or systemic manifestations related to the KIT mutation. WHO classifies them as cutaneous mastocytosis (CM), systemic mastocytosis (SM) and sarco...
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| Formato: | Artículo revista |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/39094 |
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I10-R327-article-39094 |
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ojs |
| institution |
Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| format |
Artículo revista |
| topic |
mastocytosis mast cells dermatology mastocitosis mastocitos dermatología |
| spellingShingle |
mastocytosis mast cells dermatology mastocitosis mastocitos dermatología Heinze, C Manrique, V Mandrile , J Herrero, MV Cutaneous mastocytosis, presentation of three cases |
| topic_facet |
mastocytosis mast cells dermatology mastocitosis mastocitos dermatología |
| author |
Heinze, C Manrique, V Mandrile , J Herrero, MV |
| author_facet |
Heinze, C Manrique, V Mandrile , J Herrero, MV |
| author_sort |
Heinze, C |
| title |
Cutaneous mastocytosis, presentation of three cases |
| title_short |
Cutaneous mastocytosis, presentation of three cases |
| title_full |
Cutaneous mastocytosis, presentation of three cases |
| title_fullStr |
Cutaneous mastocytosis, presentation of three cases |
| title_full_unstemmed |
Cutaneous mastocytosis, presentation of three cases |
| title_sort |
cutaneous mastocytosis, presentation of three cases |
| description |
Mastocytosis is a rare disorder characterized by neoplastic clonal proliferation of mast cells in one or more tissues, with cutaneous and/or systemic manifestations related to the KIT mutation. WHO classifies them as cutaneous mastocytosis (CM), systemic mastocytosis (SM) and sarcoma. CM includes maculopapular forms (monomorphic and polymorphic), diffuse cutaneous and mastocytoma. CM usually presents in the first six months of life with a tendency to disappear in adolescence. The location of the lesions depends on the type of mastocytosis, the most frequent form is maculopapular polymorphic one, with lesions of different sizes, reddish brown with edema, redness, itching and sometimes blistering. Darier's sign is pathognomonic. The diagnosis of cutaneous mastocytosis based on gross appearance is confirmed with skin biopsy showing an increased number of mast cells. Our purpose is the communication of three cases of CM in pediatric age with different clinical and morphologies manifestations highlighting the role of histochemical techniques and immunohistochemistry for the definitive diagnosis of the lesion.
PRESENTATION OF CASES
Case 1: Male patient presents a pruritic tumor in the right lower limb from 3 months and a similar one in the right arm. Darier negative.
Case 2: Male patient presents infiltrated erythematous papules with defined limits on the face, inframammary and suprapubic región, and erythematous-brown plaque in the right retroauricular región with similar characteristics.
Case 3: 4 year old female patient with Brown plaque-type lesions from birth that increased in number with growth, asymptomatic.
Biopsies were fixed in 10% formalin, embedded in paraffin, and stained with hematoxylin/eosin, histochemical techniques with toluidine blue and immunohistochemistry. Histological sections showed dermis occupied by a proliferation of mast cells, arranged according to the cases in a diffuse way, in nests and perivascular. They presented monomorphic nuclei and granular cytoplasms that stood out with toluidine blue techniques, being metachromatic. (+40 x mm2). Immunohistochemical techniques for CD117 were performed, being all positive.
CONCLUSION: Our purpose was to present three forms of rare mast cell tumors, highlighting the need for its clinical and pathological differential diagnosis with other tumors, mainly with histiocytosis. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2022 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/39094 |
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AT heinzec cutaneousmastocytosispresentationofthreecases AT manriquev cutaneousmastocytosispresentationofthreecases AT mandrilej cutaneousmastocytosispresentationofthreecases AT herreromv cutaneousmastocytosispresentationofthreecases AT heinzec mastocitosiscutaneapresentaciondetrescasos AT manriquev mastocitosiscutaneapresentaciondetrescasos AT mandrilej mastocitosiscutaneapresentaciondetrescasos AT herreromv mastocitosiscutaneapresentaciondetrescasos |
| first_indexed |
2024-09-03T21:04:11Z |
| last_indexed |
2024-09-03T21:04:11Z |
| _version_ |
1809210358551805952 |
| spelling |
I10-R327-article-390942024-04-15T16:14:45Z Cutaneous mastocytosis, presentation of three cases Mastocitosis cutánea, presentación de tres casos Heinze, C Manrique, V Mandrile , J Herrero, MV mastocytosis mast cells dermatology mastocitosis mastocitos dermatología Mastocytosis is a rare disorder characterized by neoplastic clonal proliferation of mast cells in one or more tissues, with cutaneous and/or systemic manifestations related to the KIT mutation. WHO classifies them as cutaneous mastocytosis (CM), systemic mastocytosis (SM) and sarcoma. CM includes maculopapular forms (monomorphic and polymorphic), diffuse cutaneous and mastocytoma. CM usually presents in the first six months of life with a tendency to disappear in adolescence. The location of the lesions depends on the type of mastocytosis, the most frequent form is maculopapular polymorphic one, with lesions of different sizes, reddish brown with edema, redness, itching and sometimes blistering. Darier's sign is pathognomonic. The diagnosis of cutaneous mastocytosis based on gross appearance is confirmed with skin biopsy showing an increased number of mast cells. Our purpose is the communication of three cases of CM in pediatric age with different clinical and morphologies manifestations highlighting the role of histochemical techniques and immunohistochemistry for the definitive diagnosis of the lesion. PRESENTATION OF CASES Case 1: Male patient presents a pruritic tumor in the right lower limb from 3 months and a similar one in the right arm. Darier negative. Case 2: Male patient presents infiltrated erythematous papules with defined limits on the face, inframammary and suprapubic región, and erythematous-brown plaque in the right retroauricular región with similar characteristics. Case 3: 4 year old female patient with Brown plaque-type lesions from birth that increased in number with growth, asymptomatic. Biopsies were fixed in 10% formalin, embedded in paraffin, and stained with hematoxylin/eosin, histochemical techniques with toluidine blue and immunohistochemistry. Histological sections showed dermis occupied by a proliferation of mast cells, arranged according to the cases in a diffuse way, in nests and perivascular. They presented monomorphic nuclei and granular cytoplasms that stood out with toluidine blue techniques, being metachromatic. (+40 x mm2). Immunohistochemical techniques for CD117 were performed, being all positive. CONCLUSION: Our purpose was to present three forms of rare mast cell tumors, highlighting the need for its clinical and pathological differential diagnosis with other tumors, mainly with histiocytosis. La mastocitosis es un raro trastorno caracterizado por la proliferación clonal neoplásica de mastocitos en uno o más órganos con manifestaciones cutáneas y/o sistémicas, relacionada a la mutación KIT. La WHO las clasifica en mastocitosis cutáneas (MC), sistémicas (MS) y sarcoma. La MC incluye formas maculopapular (variantes monomorfa y polimorfa), cutáneo difusa y mastocitoma. La MC se suele presentar en los primeros seis meses de vida con tendencia a desaparecer en la adolescencia. La localización de las lesiones depende del tipo de mastocitosis, la forma más frecuente es la maculopapular polimorfa, con lesiones de diferentes tamaños, rojizas amarronadas con edema, rubor, prurito y a veces formación de ampollas. El signo de Darier es patognomónico.El diagnóstico de mastocitosis cutánea basado en la apariencia macroscópica se confirma con biopsia de piel que muestre un aumento en el número de mastocitos.Nuestro objetivo es la comunicación de tres casos de MC en edad pediátrica con manifestaciones clínicas y morfológicas diferentes, destacando el rol de técnicas de histoquímica e inmunohistoquímica para el diagnóstico definitivo de la lesión. PRESENTACIÓN DE CASOS Caso 1: Paciente sexo masculino presenta tumor en miembro inferior derecho pruriginoso desde los 3 meses y otro similar en brazo derecho. Darier negativo. Caso 2: Paciente sexo masculino presenta en rostro, región inframamaria y suprapúbica pápulas eritematosas de límites definidos infiltradas y en región retrouricular derecha placa eritematoparduzca de similares características. Caso 3: Paciente sexo femenino de 4 años con lesiones desde el nacimiento tipo placas pardas que aumentaron en número con el crecimiento, asintomáticas. Las biopsias se fijaron en formol al 10%, se incluyeron en parafina y se colorearon con hematoxilina/eosina, técnicas de histoquímica con azul de toluidina e inmunohistoquímica. Las secciones histológicas mostraron dermis ocupada por una proliferación de células mastocíticas, dispuestas según los casos en forma difusa, en nidos y perivascular. Las mismas presentaron núcleos monomorfos y citoplasmas granulares que se destacaron con técnicas de azul de toluidina, siendo metacromáticos.(+ de 40 x mm2). Se realizaron técnicas de inmunohistoquímica para CD117, todas positivas. CONCLUSIÓN: Nuestro objetivo fue presentar tres formas de tumores mastocíticos poco frecuentes destacando la necesidad de su diagnóstico diferencial clínico y patológico con otros tumores, principalmente con histiocitosis. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-10-26 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion . https://revistas.unc.edu.ar/index.php/med/article/view/39094 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. Suplemento JIC XXIII (2022): Suplemento JIC XXIII 1853-0605 0014-6722 http://creativecommons.org/licenses/by-nc/4.0 |