Head and Neck Pathology (2023) 17:581–586

https://doi.org/10.1007/s12105-023-01530-4

CASE REPORTS

Congenital Melanotic Macule of the Tongue: Report of Two Cases

and Literature Review
José Alcides Almeida de Arruda1 · Rosanna Gómez2 · Verónica Bracho3 · Israel Leal Cavalcante4,5 ·
Ricardo Pérez‑Alfonzo3 · Mariana Villarroel‑Dorrego2 · Bruno Augusto Benevenuto de Andrade4

Received: 1 December 2022 / Accepted: 11 January 2023 / Published online: 1 February 2023
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023

Abstract
Background Congenital melanotic macule of the tongue (CMMT) has been described as a distinct entity, despite its unknown
etiology. However, the diagnosis and management of affected newborns may challenge clinicians and pediatric dentists.
Methods We document here the clinicopathological findings of two additional cases of CMMT. A literature review of CMMT
reports identified across PubMed, Web of Science, Embase, and Scopus was also conducted.
Results The patients, 2- and 4 month-old Venezuelan boys, respectively, presented at birth with a single or multiple dark-
brown-pigmented macule exclusively on the dorsum of the tongue. Histopathological features revealed increased melanin
pigmentation in the basal epithelial layer with overlying hyperkeratosis and pigment-laden subepithelial macrophages with
normal morphological appearance. Nine studies comprising 17 cases of CMMT have been described hitherto. Most cases
were from the USA and France (n = 6 each). Twelve (70.6%) patients were males, eight (50%) were white, and median age
was 2.7 months. CMMT presented as brownish to black, solitary or multiple pigmentations located in the right or left region
of the dorsum of the tongue, ranging in size from 3.0 to 30.0 mm.
Conclusion An important feature for the diagnosis of CMMT is the information about the manifestation at birth and conse-
quent proportional growth. This report intends to draw the attention of pediatricians and dentists to this apparently under-
diagnosed condition for decision-making and management of affected newborns.

Keywords Congenital · Neonatology · Newborn · Pediatric dentistry · Pigmentation · Tongue

Introduction

Congenital melanotic macule of the tongue (CMMT) is a

* Bruno Augusto Benevenuto de Andrade
augustodelima33@hotmail.com
1
Department of Oral Surgery, Pathology and Clinical
Dentistry, School of Dentistry, Universidade Federal de
Minas Gerais, Belo Horizonte, Brazil
2
Department of Oral Medicine, Dental School, Universidad
Central de Venezuela, Caracas, Venezuela
3
Dermatology Programme, Biomedicine Institute, Universidad
Central de Venezuela, Caracas, Venezuela
4
Department of Oral Diagnosis and Pathology, School
of Dentistry, Universidade Federal do Rio de Janeiro,
R. Rodolpho Paulo Rocco, n. 325, 1st floor, Rio de Janeiro,
RJ, Brazil
5
Department of Dentistry, Universidade de Fortaleza,
Fortaleza, Brazil
benign condition that appears as solitary or multiple mel-
anotic manifestations at birth, with subsequent proportional
growth unrelated to a family history of systemic conditions
associated with cutaneous/mucosal pigmentations [1]. It was
first well documented in a series of five cases in 2003 [1].
However, a decade earlier, Anavi and Mintz [2] published
the case of an 11-year-old girl with multiple congenital
black-brownish macules that were microscopically con-
sistent with prominent depositions of melanin in the basal
layer. At the time, the authors described the case as “unusual
physiologic melanin pigmentation of the tongue” [2].
It has been postulated that CMMT is a distinct entity [1].
Although pigmented lesions of the oral cavity constitute a
heterogeneous group of different etiopathogenesis, encom-
passing reactional and neoplastic processes, as well as those
associated with syndromes and systemic conditions [3, 4],

13
Vol.:(0123456789)
582
the cause of CMMT is largely unknown [1, 5]. It has been
hypothesized that this condition represents a hamartoma of
melanocytes with localized functional alteration in melanin
production [1]. Given its rarity, most cases are described in
single reports or small case series [1, 2, 5–11]. Thus, lack
of general knowledge about CMMT may also be related to
underdiagnosis; nonetheless, when such a condition occurs,
its diagnosis and management challenge clinicians and pedi-
atricians [6, 10].
We herein contribute by reporting two cases of CMMT
affecting Venezuelan infants, which probably represents the
second study from Latin America. A review of clinicopatho-
logic data on CMMT published in PubMed, Web of Science,
Embase, and Scopus is also provided to familiarize practi-
tioners with this condition.
Case Reports
Case 1
A 4-month-old boy presented with generalized pruritic pap-
ules and vesiculopustules involving the trunk, upper and
lower limbs, axilla, and palmoplantar region. The clinical
features were consistent with those of scabies, and treatment
with 10% sulfur cream (3 times/day) was instituted for 21
days. The mother also reported that her infant was born with
a pigmentation on the tongue which had been growing ever
since. There was no family history of any systemic condi-
tions. Neither the mother during pregnancy nor the infant
did take any medications. Extraoral examination revealed the
absence of hyperpigmentation in other regions of the body.
Intraoral examination disclosed an asymptomatic, solitary,
Fig. 1   Case #1. Clinicopatho-
logical aspects of a congeni-
tal melanotic macule of the
tongue. A Pigmented macule
with irregular, non-infiltrated
borders in the right region
of the dorsum of the tongue,
measuring 25.0 × 15.0 mm
in size. B Fragment of oral
mucosa with parakeratinization,
acanthosis, and pigmented basal
layer. There are a few subepi-
thelial pigmented macrophages
(hematoxylin and eosin; original
magnification: × 10)
13
Head and Neck Pathology (2023) 17:581–586
irregular, smooth, dark-brown pigmented macule on the mid-
right dorsal surface of the tongue, measuring 25.0 × 15.0 mm
in size (Fig. 1A). Since pigmented oral lesions share similar
clinical features (e.g., congenital melanocytic nevus, mel-
anotic macule, and melanoma), an incisional biopsy was
performed. Histopathological findings revealed fragments of
oral mucosa lined with stratified epithelium with parakerati-
nization. The basal cell layer was composed of keratinocytes
with a brown pigment interpreted as melanin. Basal mel-
anocytes had a normal morphological appearance, and few
subepithelial melanophages were present. Cytological atypia
and mitotic figures were not observed (Fig. 1B). Clinico-
pathological characteristics were compatible with those of
CMMT. The patient is under follow-up of 12 months.
Case 2
An otherwise healthy 2-month-old boy was evaluated due
to pigmented macules on the tongue. The mother reported
that the pigmentations had been present since birth and had
increased in size. There was no family history of any sys-
temic conditions, and neither mother nor infant had taken
any medications. Extraoral examination revealed the absence
of submandibular or cervical lymphadenopathy, as well as
hyperpigmentation in other regions of the body. Intraoral
examination revealed asymptomatic, multiple, irregular,
dark-brown-pigmented macules on the dorsal surface of
the right tip of the tongue extending posteriorly, measuring
10.0 × 10.0 mm in size (Fig. 2A). An incisional biopsy was
performed. Histopathological findings showed fragments of
oral mucosa lined with stratified epithelium with parakerati-
nization. An increased pigmentation of morphologically
Head and Neck Pathology (2023) 17:581–586
Fig. 2   Case #2. Clinicopathological aspects of a congenital mel-
anotic macule of the tongue. A Two dark-brown-pigmented macules
on the right side of the dorsal tongue, measuring 10.0 × 10.0 mm in
size. B Increased production of melanin by basal melanocytes with
normal basal melanocytes in terms of number and distribu-
tion was observed (Fig. 2B, C). Clinicopathological features
were consistent with those of CMMT. The patient is under
follow-up of six months.
Literature Review
Electronic searches were carried out in November 2022 to
identify articles on CMMT, without time or language restric-
tions, in PubMed, Web of Science, Embase, and Scopus.
The term “congenital melanotic macule of the tongue”
was employed. Abstracts of all articles identified through
the searches were examined by one author (J.A.A.A.) and
another author (B.A.B.A.) verified the information retrieved
from the articles. All studies included in the literature review
were case reports or case series of patients with CMMT
with sufficient clinicopathological data for a definitive diag-
nosis. The following information (when available) such as
author(s), year of publication, country, patient’s age and sex,
skin color/ethnicity, anatomical topography, clinical aspects,
management, and follow-up period was collected and organ-
ized using Microsoft Office Excel 2019 (Microsoft® soft-
ware, Redmond, WA, USA).
The electronic searches yielded 42 articles (PubMed: 12,
Web of Science: 10, Embase: 9, and Scopus: 11). Nine stud-
ies comprising 17 cases were included [1, 2, 5–11]. The
articles were from the USA [1, 10], France [5, 9], Italy [6,
8], Israel [2], India [7], and Brazil [11]. The median age
of affected patients was 2.7 months, ranging from 0.1 to
132 months. Boys were the most affected (n = 12/70.6%).
White (n = 8) and black (n = 4) patients were the most noti-
fied. CMMT presented as solitary (n = 6) or multiple (n = 11)
583
normal morphological features. C Basal-pigmented keratinocytes and
basal melanocytes that are morphologically normal in number and
distribution (hematoxylin and eosin; original magnifications: × 10
and × 40)
pigmentations varying in black, blue, and brown in color and
ranging from 3.0 to 30.0 mm in size. Incisional biopsy was
performed in 7 patients, while excisional biopsy was per-
formed in two. In seven studies, no treatment was performed
and two did not provide such information (Table 1).
Discussion
Data on CMMT are scarce in the literature and, to the best of
our knowledge, 17 cases have been documented hitherto [1,
2, 5–11]. According to Dohil et al. [1] and Marque et al. [5],
CMMT is a distinct clinicopathological entity. Unlike other
pigmentations of the oral mucosa, where virtually any site
can be affected [3, 12, 13], the congenital melanotic macule
occurs exclusively on the dorsum of the tongue. It presents
clinically as focal or diffuse, brownish to black in color,
ranging in size from 3.0 to 30.0 mm. Of clinical relevance,
a contrasting example is the melanotic macule. Although its
cause remains uncertain, it is one of the most common pig-
mented lesions involving the oral cavity – representing 0.4%
of the specimens submitted to histopathological analysis [3,
12–14]. The typical lesion appears as a solitary, well-demar-
cated, uniformly tan to dark-brown, asymptomatic, round, or
oval macule with a diameter of 5.0 mm or less. The maxi-
mum dimension is achieved rather rapidly and remains con-
stant thereafter [14, 15]. The lesion usually affects the lower
lip, followed by the buccal mucosa and gingiva and, in an
exceedingly rare manner, the tongue [3, 15]. Most melanotic
macules are found in female patients, with no predilection
for skin color, and between the third and seventh decades of
life [3, 14]. Rare instances of melanotic macule have been
13
584 Head and Neck Pathology (2023) 17:581–586

Table 1  Literature review of articles published in PubMed, Web of Science, Embase, and Scopus and data from two additional cases of congeni-
tal melanotic macule of the tongue
Author(s)/year of Age Sex Skin color/ethnicity Anatomical topog- Clinical aspects Management Follow-up
publication and raphy (months)
country

Anavi & Mintz 1992/ 11 years F Black Right dorsum of the Multiple black- An incisional biopsy NI
Israel [2] tongue brownish macules was done and the
(10.0–30.0 mm) macules were not
removed
Menni & Boccardi 3 days M White Left dorsum of the Multiple blue–black An incisional biopsy 6
2001/Italy [6] tongue macules (5.0– was done and the
10.0 mm) macules were not
removed
Dohil et al. 2003/ 5 months F White Left dorsum of the Solitary black macule Incisional biopsy NI
USA [1] tongue (3.0 × 3.1 mm)
Dohil et al. 2003/ NI F White Midportion of the Solitary brown mac- Incisional biopsy 6
USA [1] tongue ule (3.5 × 3.0 mm)
Dohil et al. 2003/ 2 months M White Left dorsum of the Multiple dark-brown Incisional biopsy 6
USA [1] tongue macules (3.0–
4.0 mm)
Dohil et al. 2003/ 3 weeks M Black Dorsum of the tongue Multiple bluish-black Incisional biopsy 4
USA [1] macules
Dohil et al. 2003/ 3 weeks M Hispanic Anterior and mid por- Multiple dark-brown Incisional biopsy 2
USA [1] tion of dorsum of macules (3.0–
the tongue 4.0 mm)
Marque et al. 2008/ 3 months M North African Left anterior portion Multiple brown– Excisional biopsy NI
France [5] of dorsum of the black macules
tongue (3.0–5.0 mm)
Marque et al. 2008/ 3 months F White Tip portion of dor- Solitary brownish None 9
France [5] sum of the tongue macule (NI)
Marque et al. 2008/ 2 months M South American Left dorsum of the Multiple brown None NI
France [5] tongue macules (NI)
Marque et al. 2008/ 10 months F White Left dorsum of the Solitary brown mac- Excisional biopsy 24
France [5] tongue ule (NI)
Marque et al. 2008/ 1 month M White Right dorsum of the Solitary brown mac- None 8
France [5] tongue ule (NI)
Kumar et al. 2015/ 5 months M NI Right dorsum of the Solitary black macule None NI
India [7] tongue (6.0 × 6.0 mm)
Savoia et al. 2015/ 10 weeks M Black Left and mid anterior Multiple dark-brown None 30
Italy [8] dorsum of the macules (3.0–
tongue 12.0 mm)
Chaput et al. 2016/ 2 months M Black Right dorsum of the Multiple black mac- NI NI
France [9] tongue ules (NI)
Ablan et al. 2020/ 39 weeks M Hispanic Right dorsum of the Multiple dark- None 7
USA [10] tongue brown macules
(5.0 × 15.0 mm)
Resende et al. 2021/ 5 months M White Right dorsum of the Multiple brown–gray None 60
Brazil [11] tongue macules (NI)
Current case 1 4 months M Black Right and mid dor- Solitary dark- Incisional biopsy 12
sum of the tongue brown macule
(25.0 × 15.0 mm)
Current case 2 2 months M Black Tip portion of right Multiple Incisional biopsy 6
dorsum of the (10.0 × 10.0 mm)
tongue

F female; M male; mm millimeters; NI not informed

13
Head and Neck Pathology (2023) 17:581–586
reported in children; however, it has not been described
whether they are congenital or acquired [14–17].
Similar to CMMT, oral congenital melanocytic nevi are
exceedingly rare and few cases have been published else-
where [18]. Notably, the cases of oral congenital melanocytic
nevi described affected female children and adolescents, and
the most common sites were the gingiva, labial mucosa, and
buccal mucosa [18]. Other oral-pigmented lesions such as
blue nevus and compound nevus have been documented in
girls in the second decade of life [3]. Regarding CMMT, the
median age of patients previously described in the literature
was 2.7 months, even though there are reports of both new-
borns [1, 5, 6, 8–10] and of an 11-year-old patient [2]. Our
cases are also in line with former reports, demonstrating that
70.6% of boys were affected [1, 5–11]. Also, an interesting
fact is that white infants with CMMT were more affected
than black infants [1, 2, 5, 6, 8, 9, 11], but with the addition
of our 2 patients of African descent, this condition appears
to have no predilection for skin color.
Conceptually, the term congenital melanocytic nevus is
employed for benign melanocytic proliferations presented at
birth or shortly thereafter [18]. It is believed that the diagno-
sis of the latter condition does not depend on its presence at
birth, but mainly on suggestive clinical and histopathologi-
cal characteristics [18]. Conversely, for CMMT, along with
the aforementioned clinical features, one should consider
the presence of the macule at birth with subsequent propor-
tional growth, as well as a negative background of systemic
conditions linked to mucosal pigmentations [1]. Neverthe-
less, the molecular mechanisms underlying CMMT remain
to be defined. The open question is whether these condi-
tions might be a melanocytic hamartoma with localized
functional impairment of melanin production [1]. Further-
more, the worldwide frequency of CMMT is unexplored. As
such, CMMT has not been reported in single- or multicenter
Brazilian studies [3, 19] or in a large survey from Thailand
[13] assessing oral-pigmented lesions. In part, this may be
a reflection that intraoral pigmentations are more difficult
to identify than their cutaneous counterparts in newborns,
although there is evidence of pigmented lesions, particularly
melanotic macules and melanocytic nevi, in the pediatric
population [14–17, 19].
Hereditary genetic diseases are known to be likely to play
an important role in altering melanogenesis, resulting in pig-
mentary anomalies [20]. Although in our patients any mac-
ules-related syndromes were ruled out, it is noteworthy that,
more recently, a systematic review identified nine syndromes
(i.e., Laugier–Hunziker, Peutz–Jeghers, McCune–Albrigh,
Carney complex, Nelson, adrenocorticotropin resistance,
Plummer–Vinson, Becker’s nevus, and LEOPARD) associ-
ated with pigmented oral lesions, but none preceding CMMT
[4]. Affected individuals were mostly adults and older adults
585
with associated pigmentations on the lips followed by the
buccal mucosa [4].
The histopathological features of CMMT consist of
increased basal pigmentation with varying degrees of over-
lying hyperkeratosis and the presence of dermal melano-
phages, while the number of melanocytes may be normal
or slightly increased [1, 15]. Of note, epidermal choristoma
shares clinical characteristics with CMMT but microscopi-
cally differs due to the submucosal presence of adnexal
structures, such as sebaceous glands, hair follicles, and sweat
glands [21]. The differential diagnosis with pigmented nevi
and melanoma can also be established [12, 22]. Mucosal
melanoma, for example, is composed of large polygonal
tumor cells and exhibits marked cytoplasmic and nuclear
pleomorphism with prominent nucleoli, melanin pigmenta-
tion, and a high mitotic index [22].
Our review identified that half the studies performed a
biopsy as an aid to diagnosis [1, 2, 5, 6]. Biopsies were cer-
tainly performed because until now there are no robust clini-
cal criteria to distinguish, for instance, CMMT or congenital
melanocytic nevi from melanomas. No further treatment is
required once a biopsy-supported diagnosis of CMMT has
been rendered. Therefore, we also emphasize long-term fol-
low-up of macules, including photographic documentation
[8, 11]. Alternatively, dermoscopy, which is a noninvasive
diagnostic method, has been used for an early detection of
cutaneous/mucosal melanomas [23] and pigmented fungi-
form papillae of the tongue (PFPT) [24]. Recently, the der-
moscopic findings of a case of CMMT with a 5-year follow-
up were described, in which a light brown homogeneous
area and projections with vessels were observed [11]. Of
clinical importance, PFPT is a rare idiopathic condition in
which only the fungiform papillae appear hyperpigmented.
Its etiopathogenesis remains unknown, but some possible
associations, including syndromes, systemic conditions, and
medications, have been postulated [25]. Clinically, PFPT
is characterized by dark-brown, blue–gray, or bluish-black
papillae. Unlike CMMT, the latter condition has a predilec-
tion for females and children and adults are equally affected
[25].
In summary, pediatricians and dentists should be aware
of the clinicopathological aspects of CMMT, which include
brownish to blackish, solitary, or multiple macules located
exclusively on the dorsum of the tongue. Information about
lingual pigmentation at birth and consequent proportional
growth is also an important feature for the diagnosis.
Acknowledgements J.A.A.A. is the recipient of fellowship granted
by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior,
Brazil (CAPES, finance code 001). B.A.B.A. is a research fellow of
Conselho Nacional de Desenvolvimento Científico e Tecnológico
(CNPq, 302627/2022-7). Mrs. E. Greene provided English editing of
the manuscript.
13
586
Funding This study was partially supported by Fundação Carlos Cha-
gas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ
- E-26/201.289/2022), Brazil.
Data Availability Not applicable.
Code Availability Not applicable.
Declarations
Conflict of interest The authors have no conflicts of interest to declare.
Ethical Approval Data were collected in accordance with guidelines
from the institutional Research Ethics Board.
Consent to Participate No identifier information is included in the case
reports, and the study meets the waiver criteria for the institutional
review board of Universidad Central de Venezuela.
Informed Consent Written informed consent was obtained from the
patients’ parents for data collection and publication of these case
reports and accompanying images.
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