Focus Dermatopathology
Correspondence Clinical Letter
Clinical Letter Congenital polypoid cutaneous adnexal and mesenchymal hamartoma: an underdiagnosed entity – Report of two cases
DOI: 10.1111/ddg.13229
Dear Editors, Frequently already developed at birth, cutaneous hamartomas are a heterogeneous group of lesions caused by an embryonic malformation that grows at the expense of epider-
Figure 1 Clinical findings in patient no. 1. Note the pedicled, flesh-colored nodule on the abdomen (0.5 cm). Hematoxylin-eosin stain, original magnification x 100.
mal, dermal, or subcutaneous components [1]. Herein, we report two cases of congenital polypoid cutaneous adnexal and mesenchymal hamartoma (CPCMH). A 12-year-old boy with a prior history of non-progressive hearing loss due to congenital agenesis of the stapes was referred for evaluation of an asymptomatic polypoid lesion on the abdomen. Already present at birth, the lesion had remained unchanged ever since. Physical examination showed a painless, soft, mobile, pedicled, flesh-colored polyp, measuring 0.5 cm (Figure 1). A female newborn was first seen by us on her 2nd day of life for a polypoid lesion on her right thigh. There was no family history of any genetic disorder, neoplasms, or similar lesions. Examination revealed a firm, solitary, well-circumscribed, skin-colored asymptomatic polyp, measuring 0.3 cm. Histopathology studies showed similar findings in both cases: exophytic pedunculated lesions covered by a normal epidermis, which was slightly acanthotic in the second case. Both lesions contained various structures, including numerous folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves (Figure 2a, b). The first case also showed adipose tissue in the central core (Figure 3). The second contained more cellular connective tissue, in particular in areas marked by randomly arranged eccrine glands (Figure 4). Hematoxylin-eosin (HE) and immunohistochemical staining for desmin and Myo-D1 confirmed the absence of striated muscle in both cases. Cutaneous hamartomas usually present as congenital polyps. They are detected by the parents during the first months of life, or – as in our two cases – at birth [1]. Both lesions showed folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves, which may be the result of anomalous induction during embryonic development [2].
Figure 2 Histopathological examination shows similar findings in both cases: an exophytic, pedunculated lesion covered by a normal epidermis (hematoxylin-eosin stain original magnification x 100).
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
1
Correspondence Clinical Letter
2
Figure 3 Both lesions contained various tissue components, including folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves. The lesion in patient no. 1 also showed adipose tissue in the central core of the lesion. Hematoxylin-eosin stain, original magnification x 100.
Figure 4 The lesion in patient no. 2 contained more cellular connective tissue, in particular in areas marked by randomly arranged eccrine glands. Hematoxylin-eosin stain, original magnification x 100.
Our cases share similarities with the condition known as striated muscle hamartoma (SMH), which is also referred to as rhabdomyomatous mesenchymal hamartoma and congenital midline hamartoma. This lesion represents a rare congenital malformation involving the dermis and subcutaneous tissue, with fewer than 70 cases reported to date [3]. Striated muscle hamartoma primarily presents as a polypoid pedunculated lesion on the face or neck of newborns. Predilection sites are areas with superficial skeletal muscle, such as the nose or chin, followed by the periorbital region and the anterior neck [3]. Histopathologically, SMH consists of a core of fibroadipose tissue covered by a normal epidermis and containing abundant hair follicles, sebaceous and eccrine glands, nerve fibers, blood vessels, and mature striated muscle. Our cases were characterized by the proliferation of various tissue components, including epidermal, pilar, sweat glandular, vascular, neural, and smooth muscle elements – findings typical of SMH. Unlike SMH, however, the lesions in our patients showed no striated muscle.
A relationship between CPCMH and SMH has previously been proposed by Grilli and Requena who suggested that the term hamartoma of cutaneous adnexa and mesenchyme be a better name for such lesions, as striated muscle is a common component of the dermis in certain areas of the face, incidentally the same areas where this hamartoma usually occurs [4]. Our cases were devoid of striated muscle, but this sole histopathological difference might be explained by the anatomical absence of striated fibers at the sites where the lesions had developed (abdomen and thigh). Striated muscle hamartoma may also occur in association with multiple ectodermal/mesodermal abnormalities. The first patient presented with a long history of conductive deafness due to congenital agenesis of the stapes. This condition has been described as an isolated event or in association with other head and neck anomalies, including accessory tragus and SMH [5]. Several cases of SMH have been reported in association with other congenital anomalies, including oculocerebrocutaneous (Delleman) and oculo-auriculo-vertebral (Goldenhar) syndrome [6]. This, too, would support the
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
Correspondence Clinical Letter
Table 1 Histopathologic differential diagnoses of CPCMH. Differential diagnoses
Clinical features
Histopathological features
Acrochordon
Pedunculated lesion on the trunk, neck, and axillae
Mantle of epidermis covering a protuberant fibrovascular core, containing nerve fibers, devoid of adnexal structures [7]
Accessory tragus
Located between the pretragal and the sternoclavicular area
Contains eccrine glands and pilosebaceous units, as well as adipose tissue and elastic cartilage (derived from first branchial arch) [8]
Fibrous hamartoma of infancy
Painless subdermal nodule (rather than a polyp)
Admixture of bundles of dense fibrous connective tissue; primitive mesenchyme arranged in nests, concentric whorls or bands; mature adipose tissue [9]
Nevus lipomatosus superficialis
Papules or nodules on the hip or buttock
Thickened collagen bundles; increased capillaries; mature ectopic adipocytes No cutaneous adnexa [10]
theory that the lesions observed in our cases are likely to be part of the clinical spectrum of SMH. Likewise, acrochordon, accessory tragus, fibrous hamartoma of infancy, and nevus lipomatosus superficialis should also be considered as clinical and pathological differential diagnoses of congenital polypoid cutaneous hamartoma (Table 1). In summary, CPCMH is an underdiagnosed entity that requires consideration in the differential diagnosis of congenital skin lesions with an apparent relation to SMH. In our opinion, said clinical presentation and histopathological diagnosis should prompt further evaluation of a potential association with other congenital anomalies. Conflict of interest None.
Esperanza Manrique-Silva1, Cristina Gonzalez-Velasco2, Emilia Fernández-López3, Manuela Yuste3, Ángel Santos-Briz2 (1) Department of Dermatology, Valladolid University Hospital, Valladolid, Spain (2) Department of Pathology, Salamanca University Hospital, Salamanca, Spain (3) Department of Dermatology, Salamanca University Hospital, Salamanca, Spain
Correspondence to Esperanza Manrique-Silva, MD Hospital Clinico Universitario de Valladolid – Edificio Rondilla Calle Rondilla Sta. Teresa, s/n
References 1
Schrecengost JE, Tabbara S, Patterson J et al. Cutaneous mesenchymal hamartoma with mixed myogenous differentiation. J Cutan Pathol 2006; 33: 327–30. 2 Choo JY, Lee JH, Lee JY et al. Congenital cutaneous solitary mixed hamartoma: An unusual case containing eccrine, neural, and lipomatous components. JAAD Case Reports 2015; 1: 88–90. 3 McKinnon EL, Rand AJ, Selim MA et al. Rhabdomyomatous mesenchymal hamartoma presenting as a sacral skin tag in two neonates with spinal dysraphism. J Cutan Pathol 2015; 42(10): 774–8. 4 Grilli R, Escalonilla P, Soriano ML et al. The so-called striated muscle hamartoma is a hamartoma of cutaneous adnexa and mesenchyme, but not of striated muscle. Acta Derm Venereol 1998; 78(5): 390. 5 Undabeitia JI, Undabeitia, J Cianci L et al. Bilateral congenital absence of the stapes superstructure in two siblings. Case Rep Otolaryngol 2014; 901672. 6 Read RW, Burnstine M, Rowland JM et al. Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review. Ophthalmology 2001; 108: 798. 7 Solis-Coria A, Vargas-Gonzalez R, Sotelo-Avila C. Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area. Pathol Oncol Res 2007; 13(4): 375–8. 8 Bahrani B, Khachemoune A. Review of accessory tragus with highlights of its associated syndromes. Int J Dermatol 2014; 53(12): 1442–6. 9 Müller CSL, Cerroni L et al. Fibrous hamartoma of infancy within a congenital nevus. J Dtsch Dermatol Ges 2015; 1282–4. 10 Bancalari E, Martínez-Sánchez D, Tardío JC. Nevus lipomatosus superficialis with a folliculosebaceous component: report of 2 cases. Patholog Res Int 2011; 2011: 105973.
47010 Valladolid, Spain E-mail: [email protected]
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
3
Correspondence Clinical Letter
Clinical Letter Congenital polypoid cutaneous adnexal and mesenchymal hamartoma: an underdiagnosed entity – Report of two cases
DOI: 10.1111/ddg.13229
Dear Editors, Frequently already developed at birth, cutaneous hamartomas are a heterogeneous group of lesions caused by an embryonic malformation that grows at the expense of epider-
Figure 1 Clinical findings in patient no. 1. Note the pedicled, flesh-colored nodule on the abdomen (0.5 cm). Hematoxylin-eosin stain, original magnification x 100.
mal, dermal, or subcutaneous components [1]. Herein, we report two cases of congenital polypoid cutaneous adnexal and mesenchymal hamartoma (CPCMH). A 12-year-old boy with a prior history of non-progressive hearing loss due to congenital agenesis of the stapes was referred for evaluation of an asymptomatic polypoid lesion on the abdomen. Already present at birth, the lesion had remained unchanged ever since. Physical examination showed a painless, soft, mobile, pedicled, flesh-colored polyp, measuring 0.5 cm (Figure 1). A female newborn was first seen by us on her 2nd day of life for a polypoid lesion on her right thigh. There was no family history of any genetic disorder, neoplasms, or similar lesions. Examination revealed a firm, solitary, well-circumscribed, skin-colored asymptomatic polyp, measuring 0.3 cm. Histopathology studies showed similar findings in both cases: exophytic pedunculated lesions covered by a normal epidermis, which was slightly acanthotic in the second case. Both lesions contained various structures, including numerous folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves (Figure 2a, b). The first case also showed adipose tissue in the central core (Figure 3). The second contained more cellular connective tissue, in particular in areas marked by randomly arranged eccrine glands (Figure 4). Hematoxylin-eosin (HE) and immunohistochemical staining for desmin and Myo-D1 confirmed the absence of striated muscle in both cases. Cutaneous hamartomas usually present as congenital polyps. They are detected by the parents during the first months of life, or – as in our two cases – at birth [1]. Both lesions showed folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves, which may be the result of anomalous induction during embryonic development [2].
Figure 2 Histopathological examination shows similar findings in both cases: an exophytic, pedunculated lesion covered by a normal epidermis (hematoxylin-eosin stain original magnification x 100).
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
1
Correspondence Clinical Letter
2
Figure 3 Both lesions contained various tissue components, including folliculosebaceous units, eccrine glands, smooth muscle, blood vessels, and nerves. The lesion in patient no. 1 also showed adipose tissue in the central core of the lesion. Hematoxylin-eosin stain, original magnification x 100.
Figure 4 The lesion in patient no. 2 contained more cellular connective tissue, in particular in areas marked by randomly arranged eccrine glands. Hematoxylin-eosin stain, original magnification x 100.
Our cases share similarities with the condition known as striated muscle hamartoma (SMH), which is also referred to as rhabdomyomatous mesenchymal hamartoma and congenital midline hamartoma. This lesion represents a rare congenital malformation involving the dermis and subcutaneous tissue, with fewer than 70 cases reported to date [3]. Striated muscle hamartoma primarily presents as a polypoid pedunculated lesion on the face or neck of newborns. Predilection sites are areas with superficial skeletal muscle, such as the nose or chin, followed by the periorbital region and the anterior neck [3]. Histopathologically, SMH consists of a core of fibroadipose tissue covered by a normal epidermis and containing abundant hair follicles, sebaceous and eccrine glands, nerve fibers, blood vessels, and mature striated muscle. Our cases were characterized by the proliferation of various tissue components, including epidermal, pilar, sweat glandular, vascular, neural, and smooth muscle elements – findings typical of SMH. Unlike SMH, however, the lesions in our patients showed no striated muscle.
A relationship between CPCMH and SMH has previously been proposed by Grilli and Requena who suggested that the term hamartoma of cutaneous adnexa and mesenchyme be a better name for such lesions, as striated muscle is a common component of the dermis in certain areas of the face, incidentally the same areas where this hamartoma usually occurs [4]. Our cases were devoid of striated muscle, but this sole histopathological difference might be explained by the anatomical absence of striated fibers at the sites where the lesions had developed (abdomen and thigh). Striated muscle hamartoma may also occur in association with multiple ectodermal/mesodermal abnormalities. The first patient presented with a long history of conductive deafness due to congenital agenesis of the stapes. This condition has been described as an isolated event or in association with other head and neck anomalies, including accessory tragus and SMH [5]. Several cases of SMH have been reported in association with other congenital anomalies, including oculocerebrocutaneous (Delleman) and oculo-auriculo-vertebral (Goldenhar) syndrome [6]. This, too, would support the
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
Correspondence Clinical Letter
Table 1 Histopathologic differential diagnoses of CPCMH. Differential diagnoses
Clinical features
Histopathological features
Acrochordon
Pedunculated lesion on the trunk, neck, and axillae
Mantle of epidermis covering a protuberant fibrovascular core, containing nerve fibers, devoid of adnexal structures [7]
Accessory tragus
Located between the pretragal and the sternoclavicular area
Contains eccrine glands and pilosebaceous units, as well as adipose tissue and elastic cartilage (derived from first branchial arch) [8]
Fibrous hamartoma of infancy
Painless subdermal nodule (rather than a polyp)
Admixture of bundles of dense fibrous connective tissue; primitive mesenchyme arranged in nests, concentric whorls or bands; mature adipose tissue [9]
Nevus lipomatosus superficialis
Papules or nodules on the hip or buttock
Thickened collagen bundles; increased capillaries; mature ectopic adipocytes No cutaneous adnexa [10]
theory that the lesions observed in our cases are likely to be part of the clinical spectrum of SMH. Likewise, acrochordon, accessory tragus, fibrous hamartoma of infancy, and nevus lipomatosus superficialis should also be considered as clinical and pathological differential diagnoses of congenital polypoid cutaneous hamartoma (Table 1). In summary, CPCMH is an underdiagnosed entity that requires consideration in the differential diagnosis of congenital skin lesions with an apparent relation to SMH. In our opinion, said clinical presentation and histopathological diagnosis should prompt further evaluation of a potential association with other congenital anomalies. Conflict of interest None.
Esperanza Manrique-Silva1, Cristina Gonzalez-Velasco2, Emilia Fernández-López3, Manuela Yuste3, Ángel Santos-Briz2 (1) Department of Dermatology, Valladolid University Hospital, Valladolid, Spain (2) Department of Pathology, Salamanca University Hospital, Salamanca, Spain (3) Department of Dermatology, Salamanca University Hospital, Salamanca, Spain
Correspondence to Esperanza Manrique-Silva, MD Hospital Clinico Universitario de Valladolid – Edificio Rondilla Calle Rondilla Sta. Teresa, s/n
References 1
Schrecengost JE, Tabbara S, Patterson J et al. Cutaneous mesenchymal hamartoma with mixed myogenous differentiation. J Cutan Pathol 2006; 33: 327–30. 2 Choo JY, Lee JH, Lee JY et al. Congenital cutaneous solitary mixed hamartoma: An unusual case containing eccrine, neural, and lipomatous components. JAAD Case Reports 2015; 1: 88–90. 3 McKinnon EL, Rand AJ, Selim MA et al. Rhabdomyomatous mesenchymal hamartoma presenting as a sacral skin tag in two neonates with spinal dysraphism. J Cutan Pathol 2015; 42(10): 774–8. 4 Grilli R, Escalonilla P, Soriano ML et al. The so-called striated muscle hamartoma is a hamartoma of cutaneous adnexa and mesenchyme, but not of striated muscle. Acta Derm Venereol 1998; 78(5): 390. 5 Undabeitia JI, Undabeitia, J Cianci L et al. Bilateral congenital absence of the stapes superstructure in two siblings. Case Rep Otolaryngol 2014; 901672. 6 Read RW, Burnstine M, Rowland JM et al. Rhabdomyomatous mesenchymal hamartoma of the eyelid: report of a case and literature review. Ophthalmology 2001; 108: 798. 7 Solis-Coria A, Vargas-Gonzalez R, Sotelo-Avila C. Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area. Pathol Oncol Res 2007; 13(4): 375–8. 8 Bahrani B, Khachemoune A. Review of accessory tragus with highlights of its associated syndromes. Int J Dermatol 2014; 53(12): 1442–6. 9 Müller CSL, Cerroni L et al. Fibrous hamartoma of infancy within a congenital nevus. J Dtsch Dermatol Ges 2015; 1282–4. 10 Bancalari E, Martínez-Sánchez D, Tardío JC. Nevus lipomatosus superficialis with a folliculosebaceous component: report of 2 cases. Patholog Res Int 2011; 2011: 105973.
47010 Valladolid, Spain E-mail: [email protected]
© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd. | JDDG | 1610-0379/2017
3
