10.5826/dpc.1203a82
Introduction - The clinical appearance of the uncommon cutaneous leiomyomatous tumors (LMT) is nonspecific, leading to an extensive differential diagnosis. A non-invasive tool such as high-frequency ultrasound (HFUS) is required for characterizing LMTs in the clinical setting. Although the sonographic features of their uterine counterpart had been well reported, there are only scant reports on the use of ultrasound (US) for studying leiomyomatous neoplasms of the skin and nail.
Objectives and methods – We Characterized common sonographic features of LMT using HFUS in three patients, two of them with multiple cutaneous leiomyomas and another with a subungual leiomyosarcoma.
Results – In all cases, several shared ultrasound (US) characteristics were found. Moreover, we describe a new ultrasonographic sign in cutaneous leiomyomas called the “pine tree” sign, with other features not previously reported.
Conclusion - These ultrasonographic characteristics would strengthen the clinical diagnosis, assist with treatment management, and may help avoid serial biopsies in cases with multiple cutaneous lesions.
text/xml
2160-9381
1942
en
Ximena Wortsman
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
leiomyoma cutis; nail leiomyosarcoma; cutaneous leiomyoma ultrasound; leiomyosarcoma nail ultrasound; dermatologic ultrasound; nail ultrasound
Sonographic Characteristics of Leiomyomatous Tumors of Skin and Nail—A Case Series
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Original Article
2022-07-28
2021-08-06
2022-07-28
2022-09-15
Dermatol Pract Concept
Introduction - The clinical appearance of the uncommon cutaneous leiomyomatous tumors (LMT) is nonspecific, leading to an extensive differential diagnosis. A non-invasive tool such as high-frequency ultrasound (HFUS) is required for characterizing LMTs in the clinical setting. Although the sonographic features of their uterine counterpart had been well reported, there are only scant reports on the use of ultrasound (US) for studying leiomyomatous neoplasms of the skin and nail.
Objectives and methods – We Characterized common sonographic features of LMT using HFUS in three patients, two of them with multiple cutaneous leiomyomas and another with a subungual leiomyosarcoma.
Results – In all cases, several shared ultrasound (US) characteristics were found. Moreover, we describe a new ultrasonographic sign in cutaneous leiomyomas called the “pine tree” sign, with other features not previously reported.
Conclusion - These ultrasonographic characteristics would strengthen the clinical diagnosis, assist with treatment management, and may help avoid serial biopsies in cases with multiple cutaneous lesions.
Ximena Wortsman
2022/07/28
10.5826/dpc.1203a82
Department of Dermatology, Facultad de Medicina, Pontificia Universidad Católica de Chile; Institute for Diagnostic Imaging and Research of the Skin and Soft Tissues, Santiago, Chile
2160-9381
leiomyoma cutis; nail leiomyosarcoma; cutaneous leiomyoma ultrasound; leiomyosarcoma nail ultrasound; dermatologic ultrasound; nail ultrasound
en
Sonographic Characteristics of Leiomyomatous Tumors of Skin and Nail—A Case Series
https://dpcj.org/index.php/dpc/article/download/1942/1694
      Sonographic Characteristics of Leiomyomatous
          Tumors of Skin and Nail: a Case Series
     Eyal Taleb1, Cristobal Saldías2, Sergio Gonzalez3, Carlos Misad4, Ximena Wortsman2,5


1 Department of Dermatology, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel
2 Department of Dermatology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
3 Department of Pathology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
4 Department of Pathology, Facultad de Medicina, Universidad de Chile, Santiago, Chile
5 Institute for Diagnostic Imaging and Research of the Skin and Soft Tissues, Santiago, Chile



Key words: leiomyoma cutis, nail leiomyosarcoma, cutaneous leiomyoma ultrasound, leiomyosarcoma nail ultrasound,
dermatologic ultrasound
Citation: Taleb E, Saldìas C, Gonzalez S, Misad C, Wortsman X. Sonographic characteristics of leiomyomatous tumors of skin and
nail – a case series. Dermatol Pract Concept. 2022;12(3):e2022082. DOI: https://doi.org/10.5826/dpc.1203a82
Accepted: October 21, 2021; Published: July 2022
Copyright: ©2022 Taleb et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use,
distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding author: Eyal Taleb, MD, Dermatology department, Sourasky medical center, 6 Weizmann st, 64239, Tel aviv, Israel
Telephone number: +972-52-7360756. E-mail address: eyalt@tlvmc.gov.il; et83et83@gmail.com




  ABSTRACT             Introduction: The clinical appearance of the uncommon cutaneous leiomyomatous tumors (LMT) is
                       nonspecific, leading to an extensive differential diagnosis. A non-invasive tool such as high-­frequency
                       ultrasound (HFUS) is required for characterizing LMTs in the clinical setting. Although the ­sonographic
                       features of their uterine counterpart had been well reported, there are only scant reports on the use of
                       ultrasound for studying leiomyomatous neoplasms of the skin and nail.
                       Objectives: To identify and well characterize common sonographic features of LMT.
                       Methods: A retrospective analysis of HFUS images of LMT in three different patients, two of them
                       with multiple cutaneous leiomyomas and another with a subungual leiomyosarcoma.
                       Results: In all cases, several shared ultrasound characteristics were found. Moreover, we describe a
                       new ultrasonographic sign in cutaneous leiomyomas called the “pine tree” sign, with other features
                       not previously reported.
                       Conclusions: These ultrasonographic characteristics would strengthen the clinical diagnosis, assist
                       with treatment management, and may help avoid serial biopsies in cases with multiple cutaneous
                       lesions.




Original Article | Dermatol Pract Concept. 2022;12(3):e2022082                                                                      1
Introduction                                                     Methods
Leiomyoma cutis was first described by Rudolf Virchow in         All patients were evaluated by dermatologists and under-
1854, yet their prevalence is still unknown [1]. These un-       went a high-frequency color Doppler ultrasound examina-
common tumors are rarely detected outside the uterus or          tion with a LOGIQ E9 XD Clear device (General Electric
the gastrointestinal tract [1-4]. Furthermore, cutaneous         Health Systems) using linear and compact linear probes
leiomyosarcomas, the malignant form of these tumors,             working with an upper frequency of 15 MHz and 18MHz,
are even rarer, comprising only 4.0%-6.5% of all soft tis-       respectively. A copious amount of gel was used to contact
sue sarcomas [5-10]. Superficial cutaneous leiomyomas are        the skin with the probe, and the protocol of the examina-
divided into 3 distinct variants based on the origin of the      tion followed the published guidelines for performing der-
smooth muscle within the tumor. Angioleiomyoma, the most         matologic ultrasound examinations [15]. Our Institutional
common form, originates from the tunica media of blood           Review Board excludes the review of case series with five or
vessels; ­piloleiomyoma, which arises from the erector pili      fewer cases; however, according to the institutional protocol,
muscle of the p
              ­ ilosebaceous-unit; and genital leiomyoma,        the patients provided signed informed consent for the pub-
which derives from the network of smooth muscles in the          lication of their clinical and ultrasonographic data as well
external genitalia [2]. Leiomyosarcoma may also arise from       as their histological images. Moreover, ultrasound examina-
a dermal component such as the erector pili muscle, or a         tions followed the Helsinki principles of medical ethics.
vascular smooth muscle in the hypodermal tissue [3,5-7].
The origin of subungual leiomyomatous tumors is proba-           Results
bly from the vascular smooth muscle at the subcutaneous
layer since the erector pili muscle is missing in the nail bed   Case 1
[11,12]. To date, reports of digital cutaneous leiomyomas        A healthy 32-year-old male presented to our clinic with a
are scarce, and to the best of our knowledge, a presentation     16-year history of tender and firm multiple erythematous
of leiomyosarcoma in the nail bed has not been previously        nodules on the anterior-medial aspect of his left leg without
reported [11-13].                                                a history of trauma or infection (Figure 1A). On sonogra-
    The clinical appearance of cutaneous leiomyomatous tu-       phy, several focal, deeply hypoechoic, solid, pseudo-nodular
mors is nonspecific, and therefore, the differential diagnosis   structures of different sizes located in the dermis and pre-
is broad, including other benign and malignant lesions, es-      dominantly the hypodermis were detected. Some of these
pecially soft tissue tumors. Thus, a non-invasive tool to dif-   nodules showed an ill-defined area at the periphery with hy-
ferentiate between these tumors is necessary. In recent years,   poechoic pseudo-tubular structures and a posterior acoustic
high-frequency color Doppler ultrasound (HFUS) has been          reinforcement artifact. Some of these pseudo-tubules resem-
included in the dermatologic clinical practice tools arsenal     bled branches of a pine tree and therefore named the “pine
[14]. This imaging technique provides relevant information       tree” sign. Few punctate hyperechoic spots were seen, but
about the nature of a lesion, its anatomical location and        neither signs of gross calcifications with posterior acoustic
structures in its vicinity, and the degree of its vascularity.   shadowing artifact nor perilesional edema were detected.
Although a definitive diagnosis of these smooth muscle           On color Doppler, low flow arterial and venous vessels were
tumors is made histologically with specific immune-histo-        detected at the periphery and within these hypoechoic struc-
chemical stains, sonographic evaluation may be of great          tures (Figure 1, B-D). The histology was compatible with cu-
value for dermatologists and their patients, since the diag-     taneous leiomyoma.
nosis may be determined on the spot, without risks or com-
plications, and may potentially replace the need for a skin      Case 2
biopsy [4,7,8].                                                  A 36-year-old male presented at our clinic with a 9-year his-
    We herein report the common and unique ultrasono-            tory of multiple, persistent, and slightly tender pink nodules
graphic features of 3 patients with cutaneous smooth muscle      on his trunk, right arm, and both legs (Figure 2A). The pa-
tumors: 2 with sporadic multiple cutaneous leiomyomas and        tient denied any systemic symptoms or relevant family his-
the third with a rare subungual leiomyosarcoma.                  tory. Sonographic features uncovered multiple oval, round,
                                                                 and slightly lobulated deeply hypoechoic structures with

Objectives                                                       somewhat heterogeneous areas of variable sizes, located in
                                                                 the dermis and hypodermis. These structures generated a
The aim of our study was to identify and characterize            posterior acoustic reinforcement artifact and presented some
shared sonographic features of the rare cutaneous leimyo-        punctate hyperechoic spots (Figure 2, B-D). Neither signs of
matous tumors.                                                   gross calcifications nor perilesional edema were detected. On



2                                                                    Original Article | Dermatol Pract Concept. 2022;12(3):e2022082
 A                                                                     B




                                                                       C




                                                                       D




Figure 1. 32-year-old man with multiple cutaneous leiomyomas in case 1. (B and C grayscale; D, color Doppler). (A) Clinical photograph.
(B) Dermal and hypodermal network (*) of hypoechoic bundles (arrows). (C) Dermal and hypodermal pseudo-nodular hypoechoic structure
with peripheral bundles (arrows) that resembles a “pine tree”. (D) dermal and hypodermal hypoechoic nodular structure with tiny peripheral
bundles (arrows). Notice the moderate internal and peripheral vascularity.


color Doppler, lesional and perilesional low flow arterial and         right first toe. Her physical examination revealed a firm,
venous vessels were observed. Both clinically and ultrasono-           pink-colored, tender subungual nodule. On ultrasound, a
graphically was compatible with cutaneous leiomyomatosis.              hypodermal deeply hypoechoic solid structure involving
                                                                       the nail bed and the hyponychium was observed, adja-
Case 3                                                                 cent to the bony margin of the distal phalanx (Figure 3A).
A 31-year-old healthy female presented to the clinic with a            Some punctate hyperechoic spots were detected inside the
two-year history of tender swelling at the nail region of her          lesion. Increased thickness and decreased echogenicity of



Original Article | Dermatol Pract Concept. 2022;12(3):e2022082                                                                          3
    A                                                    B




    C                                                              D




Figure 2. 36-year-old man with multiple leiomyomas in case 2. (B-D, color Doppler). (A) Clinical image. (B) Dermal pseudo-nodular structure
(*) with peripheral bundles (arrowheads) that may resemble a distorted “pine tree”. (C) Dermal nodule (*) with small and isolates peripheral
bundle (arrowhead). (D) dermal and hypodermal lobulated and hypoechoic structure (*) with peripheral bundles (arrowheads). In B-D there
are internal Band peripheral vessels.




the nail bed were seen. The nail plate was displaced up-                Conclusions
ward and maintained its bilaminar structure. Some irregu-
larities and a lack of the distal part of the bony margin of            Our results clearly demonstrate common and particular
the distal phalanx were demonstrated. On color Doppler,                 sonographic features of leiomyomatous tumors. Clinically,
the lesion showed low flow arterial vessels (Figure 3, B-D).            these tumors appear as a firm, pink to brown color papule or
The histologic diagnosis was compatible with a subungual                nodule, located mostly on the extremities or trunk, and may
leiomyosarcoma with a high mitotic rate and increased                   be painful in up to 75% of patients [1,3,4]. In some patients,
cellularity. The patient went through 2 surgeries due to                multiple cutaneous leiomyomas may be the initial presenta-
the recurrence of the tumor and later an amputation of                  tion. These leiomyoma multiplex may occur sporadically or
the toe. A thorough imaging evaluation didn’t reveal any                may be part of Reed syndrome [5,6,16]. The latter is inher-
systemic metastases.                                                    ited in an autosomal dominant manner due to a mutation
    The ultrasonographic features of the cutaneous smooth               in the gene that encodes fumarate hydratase, an enzyme of
muscle tumors (Table 1) include multiple dermal and pre-                the Krebs cycle, and is composed of cutaneous and uterine
dominantly hypodermal deeply hypoechoic solid structures                leiomyomas and renal cell carcinoma [6,15].
with posterior acoustic reinforcement artifact and internal                 Regarding our ungual case, longitudinal band, yellow
low flow vascularity. The hypodermal central part tends to              discoloration, and distal onycholysis are possible, non-
be well-defined and contains hyperechoic spots within it.               specific, clinical manifestations of this unique subungual
No evidence of edema or gross calcifications were noted in              mass[11-13]. Accordingly, the nonspecific clinical charac-
any of the 3 cases. In the periphery of the nodules, there              teristics of cutaneous tumors may be potent simulators of
are hypoechoic pseudo-tubules that can protrude into the                other dermatologic entities such as cutaneous sweat glands
dermis, creating a “pine tree” sign on sonography.                      tumors, sarcoidosis, and neurofibromatosis, among other



4                                                                            Original Article | Dermatol Pract Concept. 2022;12(3):e2022082
 A                                                                      B


                                                                                                  NB


                                                                                   DP
                                                                                                            *




 C                                                               D



                                                                                                                 NB

                                                                                                       DP                  *
                     *                                                 PP
                                                                                           IP




Figure 3. 32-year-old woman with periungual and subungual leiomyosarcoma in case 3. (A) Clinical photograph shows swelling and e­ rythema
of the hyponychium. (B-D). Ultrasound images (longitudinal views; B and C, color Doppler ultrasound, B at 18 MHz; C, zoom of the distal
part at 22 MHz and D, greyscale with color filter) show hypoechoic structure at the hyponychium that involves the nail bed. (C) Notice the
hypoechoic peripheral bundles (arrows) that protrude into the dermis of the hyponychium. (B and D). S small fracture (oblique large arrow
pointing up) and a missing distal part of the distal phalanx. Additionally, in B and D, there are hypoechoic peripheral bundles (short arrows
and arrowheads). (B and c) Low grade of vascularity. DP = distal phalanx; IP = interphalangeal joint; PP = proximal phalanx; NB=nail bed.



                         Table 1. Sonographic Characteristics of Leiomyomatous Tumors
 Dermal and hypodermal hypoechoic well-defined solid structure
 Psuedo-tubules at the lesion’s periphery. May protrude to dermis, creating the “pine tree” sign
 Hyperechoic spots within the lesion without acoustic shadow
 Posterior acoustic reinforcement artifact
 Internal mild-moderate low flow vascularity on color Doppler



conditions [1-3,9,10]. Therefore, the use of HFUS may a­ ssist          dermal and hypodermal nodules can also be detected; how-
in differentiating b
                   ­ etween these conditions (Table 2). For             ever, in sarcoid nodules, usually, there are signs of edema in
­instance, in contrast to leiomyoma, an intact epidermal cyst           the nodules periphery which seems to be absent in smooth
also demonstrates posterior acoustic enhancement without                muscle tumors [18].
internal vascularity. In case of a ruptured cyst, internal vas-             Neurogenic tumors, such as neurofibromas and schwan-
cularity is present, but the cyst borders become ill-defined,           nomas may also present as multiple and painful cutaneous
and there are signs of edema in the surrounding tissue [17].            nodules. Their sonographic appearance portrays a dermal or
    Cutaneous sarcoidosis, another possible mimicker of                 hypodermal ill-defined hypoechoic or heterogeneous mass
leiomyoma cutis, may also present clinically as solitary or             but may also have a round, oval, or fusiform shape [19].
multiple papules and nodules. Via ultrasound, hypoechoic                Hypoechoic neural tracts may be found at their periphery,



Original Article | Dermatol Pract Concept. 2022;12(3):e2022082                                                                             5
     Table 2. Sonographic Characteristics of Selected Lesions Mimicking Leiomyomatous Tumors
        Diagnosis                                               Sonographic characteristics
 Epidermal cyst [9,17]       Round shape anechoic or hypoechoic structure located in the dermis or hypodermis with
                             anechoic epidermal tract, and posterior enhancement. May also have “pseudo-testes”
                             appearance. In case of rupture or inflammation, increased echogenicity of the periphery and
                             increased vascularity is detected with color Doppler.
 Pilomatrixoma [9]           Round or lobulated nodule with a hypoechoic rim and hyperechoic center in the dermis
                             and hypodermis. Hyperechoic spots may be preset within the center of the lesion, creating a
                             “target lesion” appearance. May have acoustic shadow artifact. Vascularity may vary from
                             hypovascular to hypervascular.
 Neurofibroma [19]           Round, oval or fusiform shaped hypoechoic nodules. May be less well defined. Hypoechoic
                             neural tracts can be found centrally. Vascularity may vary from hypovascular to hypervascular.
 Schwannoma [19,20]          Well-defined round or oval shaped hypoechoic or heterogeneous nodule in the subcutaneous tissue
                             with posterior enhancement. Hypoechoic neural tracts can be found eccentrally. Occasionally
                             presenting anechoic areas and hyperechoic spots. mostly hypovascular on color Doppler.
 Dermatofibroma [9,34]       Ill-defined hypoechoic dermal lesions, usually heterogeneous. Frequently hypovascular on color
                             Doppler
 Lipomatous tumors [9]       Well defined hyperechoic oval or round-shaped structures following the skin layers. Fibrous
                             septa are detected within the lesions, and are usually hypovascular.
 Hidradenoma [21]            Well defined, solid cystic dermal and hypodermal structures that tends to show smoothly
                             lobulated borders, an inner solid component, lacunar fluid-filled spaces, septations and moving
                             echoes creating the “snow falling” sign. Slow flow hyper-vascularity is commonly detected
                             within and in the periphery of the lesion.
 Sarcoidosis [18]            Well-demarcated areas with inhomogeneous hypo-echogenicity, surrounded by an edematous
                             zone pressing down on the adjacent subcutaneous tissue (“a mass effect”). increased vascularity
                             within the lesions and in the surrounding dermis is frequently detected.
 Subungual fibroma           Eccentric oval-, round-, fusiform- or polypoid shaped hypoechoic structure, mostly
 [10,14]                     hypovascular on color Doppler.
 Subungual glomus            Hypoechoic well defined nodule, centrally located within the nail bed with increased internal
 tumor [10,14]               vascularity. Scalloping of the bony margin beneath the tumor is a frequent finding.



located centrally or eccentrically, respectively. Moreover, in      trait. The proximal part of the nail bed is a relatively com-
schwannomas, hyperechoic spots resulting from real calci-           mon location. So far, no signs of hypoechoic ­pseudo-tubules
fications may be observed, and posterior enhancement may            at their periphery or the presence of hyperechoic spots have
also be detected [2], but none of these neurogenic tumors           been reported [10,22].
demonstrate the “pine tree” sign seen in leiomyomas [20].              In comparison to the repeatedly reported sonographic
    Other differential diagnoses may include sweat gland tu-        features of uterine leiomyomas, cutaneous leiomyomas fea-
mors such as nodular hidradenomas, which tend to show a             tures are less well established [23,24]. The ultrasonographic
mixed echogenicity with anechoic and hypoechoic areas due           features of cutaneous leiomyomatous tumors present some
to their solid-cystic structure. It also frequently presents flu-   similarities to their uterine counterparts, such as their pre-
id-fluid levels, known as the “snow falling sign,” and internal     dominant hypo-echogenicity and mainly well-defined bor-
vascularity in its hypoechoic part [21].                            ders [24]. However, the intensity of the hypo-echogenicity
    For the ungual case, the differential ultrasonographic          seems to be higher in the cutaneous tumors. Moreover, al-
diagnosis includes ungual fibromas that may present as              though the cutaneous lesions were present for many years,
hypoechoic eccentric periungual hypoechoic masses that
­                                                                   there were no sonographic signs of gross calcifications, com-
­involve the nail bed. However, posterior acoustic reinforce-       monly found in uterine leiomyomas.
ment artifact, hyperechoic spots or well-defined borders are           Interestingly, our cases present a different sonographic
not commonly part of fibromas sonographic features [10,22].         appearance than other cutaneous leiomyoma cases reported
    Glomus tumors, usually located in the ungual region, tend       in the literature [25-27]. Stock et al described a lesion with a
to be well-defined round or oval-shaped hypoechoic subun-           more heterogeneous echogenicity, hypoechoic capsule at the
gual nodules with internal hypervascularity. Scalloping of          periphery, internal septations, and multiple hyperechoic cal-
the adjacent bony margin of the distal phalanx is a common          cifications [25]. However, cutaneous leiomyomas are usually




6                                                                       Original Article | Dermatol Pract Concept. 2022;12(3):e2022082
not encapsulated and rarely present calcifications on histol-              Oncol. 1983;9(4):283-287. DOI:10.1111/j.1524-4725.1983.
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in the leiomyomas and leiomyosarcoma may be due to mo-
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