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16 Treatment Principles ofSkin Malformations
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Fig. 16.2 6-year-old
patient (a, b) with
extensive CMN on the
right side of the face.
Today 13-year-old
patient (c, d). Laser
therapy, serial excision,
split skin
transplantation,
dermabrasion and
eyebrow pigmentation
were performed
221
b
c
d
ab
Fig. 16.3 17-year-old female patient with central frontal
KMN.Preoperative ndings (a) and 6months postoperatively after excision and split skin grafting (b). The area
marked in blue on the glabella can still be contoured using
dermabrasion
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M. Ahls and J. D. Raguse
abc
Fig. 16.4 16-year-old patient with temporal KMN.Preoperative ndings (a) as well as the intraoperative representa-
tion of the resulting gain in hairy scalp after therapy with skin expanders (b). Early postoperative result (c)
Hemangioma
In addition to congenital melanocytic nevi, vascular anomalies can also be classied as skin
malformations. According to the updated ISSVA
classication, vascular anomalies are divided
into two groups, vascular tumors and vascular
malformations (Table 16.2). Vascular tumors
include infantile hemangioma and congenital
hemangioma. The vascular malformations are
specied according to their hemodynamics in
slow-ow, high-ow, and combined malformations. While infantile hemangiomas show a typical growth pattern and an involution phase in
infancy and early childhood days after birth, congenital hemangiomas and vascular malformations are already evident at birth [23–25].
In both groups of vascular tumors, the therapy
aims to reduce pain and symptoms such as ulcerations, inammation, and bleeding; prevent functional losses; and, above all, improve the aesthetic
aspect [25, 26].
In the treatment of infantile and congenital
hemangiomas, systemic treatment with the betablocker propranolol is the rst choice [27, 28].
The effect on hemangiomas has not yet been
claried. On the one hand, it is assumed that propranolol leads to vasoconstriction in the vessels.
On the other hand, it can inhibit angiogenesis by
reducing the blood level of vascular endothelial
growth factor (VEGF) and broblast growth factor- 2 (FGF-2). Furthermore, it is discussed that
the effect of propranolol can induce apoptosis in
proliferating endothelial cells and lead to modulation of the renin-angiotensin system. In addition, cryotherapy, dye laser, YAG laser, or
Table 16.2 Classication of vascular anomalies (modied from ISSVA) [23–25]
Vascular tumors Vascular malformations
Infantile hemangioma
(GLUT-1 positive)
– Supercial
– Deep
– Mixed
Congenital hemangioma
– Rapidly involuting
congenital hemangioma
(RICH)
– Noninvoluting congenital
hemangioma (NICH)
Kaposiform
hemangioendothelioma
Tufted angioma
Hemangiopericytoma
Angiosarcoma
Slow-ow
malformations
– Capillary (N.
ammeus, port-wine
stain)
– Venous
– Lymphatic
Microcystic
(lymphangioma)
Macrocystic (cystic
hygroma)
High-ow
malformations
– Arteriovenous stula
– Arteriovenous
malformation
Combined
malformations
– Capillary-lymphatic-
venous (often
Klippel-Trenaunay)
– Capillary-lymphatic
(mild
Klippel-Trenaunay)
– Capillary veins with
AVM (Parkes Weber)
– Cutis marmorata
telangiectatica
congenita (CMTC)
embolization therapy can be used under certain
circumstances.
Surgical excision is only performed in excep-
tional cases and can be used, for example, to
16 Treatment Principles ofSkin Malformations
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223
improve the aesthetic result or to remove hemangioma residues [29].
In the case of vascular malformations, the
high-ow lesions are treated by embolization.
Cutaneous laser therapy is used for capillary
malformations. In the case of venous malformations, the lesion can be eliminated using laser
therapy on the one hand and percutaneous sclerotherapy on the other. If treatment fails here, surgical resection can be another treatment option.
The therapy of choice for the macrocytic form
of the lymphatic malformation is percutaneous
sclerotherapy, and for the microcytic variant surgical removal [29].
Hypertrichosis
Hypertrichosis is dened as excessive hair growth
anywhere on the body in either males or females.
The classication of hypertrichosis is heterogenous and is based on the distribution (generalized
vs. localized), the age of onset (congenital versus
acquired), and the type of hair (vellus versus
terminal).
As described above, the localized form often
occurs in the context of congenital nevi [30]. In
contrast to that, congenital generalized hypertrichosis is mostly a feature of several rare syndromes in which genetic errors result in the
dysfunction of the hair follicle or are—in case of
later onset—often drug induced [31, 32].
The pathophysiology of hypertrichosis varies
depending on the etiology. Genetic abnormalities
underlie several types of hypertrichosis, and the
pathogenesis of increased hair growth is
unknown. Histopathologically, hypertrichosis
appears as an increased number of terminal or
vellus hairs, depending on the etiology of the
hypertrichosis.
When a patient presents with generalized
hypertrichosis, the rst step in the evaluation is to
determine whether it is a congenital or an
acquired problem. This can generally be determined by patient history.
Laser hair removal, depilatory creams, and
electrolysis are used to remove unwanted hair.
The Nd:Yag laser, alexandrite laser, and diode
laser are the most efcacious hair removal lasers.
Depilatory creams typically contain calcium
thioglycolate and barium sulfate and are effective
though they may irritate the skin [32, 33]. In the
case of a localized hyperhidrosis in connection
with nevi, a complete or serial excision can of
course also be attempted as shown, depending on
the extent and location.
Skin Tags
Facial skin tags are benign eshy tumors. They
are frequently preauricular, with this form representing the most common minor anomaly of the
external ear and may be associated in rare cases
in several congenital syndromes like Goldenhar
syndrome [34, 35]. There are several treatments
of skin tags, and all require removal of the lesion.
Today, the use of radiocautery in the ofce is the
most commonly performed procedure, while
after excision, the histopathology reports should
rule out rare cases of malignancy [36].
References
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MA, Zuloaga A, de la Luz Orozco-Covarrubias
M. Giant congenital melanocytic nevi, neurocutaneous melanosis and neurological alterations.
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Rao BK, Huang CL, Wasti Q, Kopf AW, Bart RS.A
study of large congenital melanocytic nevi and associated malignant melanomas: review of cases in the
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18. DeDavid M, Orlow SJ, Provost N, Marghoob
AA, Rao BK, Wasti Q, Huang CL, Kopf AW, Bart
RS. Neurocutaneous melanosis: clinical features of
large congenital melanocytic nevi in patients with
manifest central nervous system melanosis. J Am
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19. Baker SR.Local aps in facial reconstruction, 3. Au.
Philadelphia: Elservier Saunders. 2014.
20. Koot HM, de Waard-van der Spek F, Peer CD, Mulder
PG, Oranje AP.Psychosocial sequelae in 29 children
with giant congenital melanocytic naevi. Clin Exp
Dermatol. 2000;25:589–93.
21. Alfaro A, Garcia SS, Arenas D.Intraoperative expansion of skin around large congenital naevi with
Foley catheter balloons: 11 new cases. Scand J Plast
Reconstr Surg Hand Surg. 2002;36:273–8.
22. Michel JL.Laser therapy of giant congenital melanocytic nevi. Eur J Dermatol. 2003;13:57–64.
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Amann-Vesti BR. Vascular malformations revisited.
Vasa. 2015;44:5–22.
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2018;58:1–10, Mediengruppe OberfrankenFachverlag GmbH & Co.KG.
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27. Höger PH. Hämangiome. Monatsschr Kinderheilk.
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28. Wang JY, Ighani A, Ayala AP, Akita S, Lara-Corrales
I, Alavi A. Medical, surgical, and wound care management of ulcerated infantile hemangiomas: a systematic review [Formula: see text]. J Cutan Med Surg.
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29. Leitlinie Infantile Hämangiome im Säuglings- und
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Shim WH, Kim GW, Kim HS, Kim BS, Kim MB, Ko
HC.Plexiform schwannoma with localized hypertrichosis. Ann Dermatol. 2018;30(4):508–9.
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at vaccination site. Int J Trichology. 2018;10(3):138–9.
32. Goldberg DJ. One-year follow-up results of hair
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Pellacani G, Rajabi-Estarabadi A, Nouri K.Removal
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35. Roth DA, Hildesheimer M, Bardenstein S, Goidel
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Diagnosis andTreatment
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ofVascular Anomalies
UlrichMeyer
17
Introduction
Vascular anomalies of the head and neck region
constitute approximately 60% of vascular anomalies diagnosed in children and affect approximately 1in 22 children [1, 2]. These malformations
encompass an extremely heterogeneous group of
congenital abnormalities of the vascular system,
characterized by morphological, structural, and/
or functional alterations of blood and/or lymphatic vessel (Figs.17.1 and 17.2). They have a
prevalence of 4.5%, are frequently sporadic and
associated with somatic mutations and/or a
double- hit mechanism, and are characterized by
considerable phenotypic and genetic heterogeneity. According to the ISSVA classication [3],
anomalies can be divided into vascular tumors
and vascular malformations. Vascular tumors
may be subclassied as benign, locally aggressive, borderline, and malignant tumors with multiple patterns of histological and clinical
manifestations [4]. Whereas infantile hemangiomas as the most frequent vascular tumor regularly regress with patient’s age, vascular
malformations never regress on their own, but
frequently increase in size and grow concomi-
tantly or even overproportioned with the child.
Long-term consequences are structural alterations of the diseased tissue to various extents,
even after therapy (Fig.17.3).
Most of the vascular anomalies can be correctly diagnosed on a clinical and radiological
basis by clinicians with expertise in the area [5,
6]. Of course, pathology and genetic studies can
help to conrm the diagnosis, to precise the diagnosis in difcult cases, and to orientate the treatment [7–11].
Early assessment of specic clinical features
including age at presentation, rate of growth,
location, and secondary local, systemic, and psychological effects is essential to allow timely
investigation and appropriate management.
Management options for vascular tumors include
conservative approaches, oral medications, interventional radiology, and surgical intervention as
determined by tumor type, location, and associated complications [12–15]. A combination of
several of these therapies is often required.
Treatment is often multi-staged: aims and endpoints of treatments must be clearly dened by
the multidisciplinary team (MDT) at the outset
and agreed with patients and/or their families.
U. Meyer (*)
Center for Jaw-, Face- and Skull Surgery,
Münster, Germany
e-mail: praxis@mkg-muenster.de
© Springer Nature Switzerland AG 2023
U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
https://doi.org/10.1007/978-3-031-28069-6_17
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U. Meyer
a
c
b
d
Fig. 17.1 Clinical aspect of vascular malformation. (a)
Hemangioma of skin (©Zeimusu, from https://de.wikipe-
dia.org/wiki/H%C3%A4mangiom#/media/
Datei:Capillary_haemangioma.jpg, Public Domain). (b)
Hemangioma of nose. (Source: M. Sand, D. Sand,
C. Thrandorf, V. Paech, P. Altmeyer, F. G. Bechara:
Cutaneous lesions of the nose. In: Head & face medicine
Band 6, 2010, S. 7, ISSN 1746- 160X. https://doi.
org/10.1186/1746- 160X- 6- 7. PMID 20525327). (c)
Venous malformation of lip. (Source: Meyer (Kieferklinik
Münster)). (d) Lymphangioma of head and neck area
(Vardhan Kothapalli, Lymphangioma (Cystic
Hygroma), from https://commons.wikimedia.org/wiki/
File:Lymphangioma.jpg, licensed under Free Art License)
17 Diagnosis andTreatment ofVascular Anomalies
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227
a
b
cd
Fig. 17.2 MRI images of vascular anomalies. (a) Hemangioma, (b) venous malformation, (c) lymphangioma, (d)
arteriovenous shunt. (Source: Meyer (Kieferklinik Münster))
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U. Meyer
a
c
Fig. 17.3 Long-term consequences of large craniofacial
lymphangioma. (a) Left-sided atrophy of face. (Source:
Meyer, informed consent of patient present). (b) The maxillary bone is altered through the lymphangioma with a
microcystic bone structure. (c) The lymphangioma extents
from the maxilla to intracranial structures. (Source: Meyer
b
d
e
(Kieferklinik Münster)). (d) OPT view of midfacial
underdevelopment, leading to an extreme left-sided open
bite. (Source: Meyer (Kieferklinik Münster)). (e) AP ceph
view of midfacial underdevelopment including the orbital
structures. (Source: Meyer (Kieferklinik Münster))
Classication
Vascular tumors, composed of rapidly proliferating cells and incomplete blood vessels, are differentiated according to the widely recognized
2007 classication through the International
Society for the Study of Vascular Anomalies
(ISSVA), based on the original Mulliken and
Glowacki dichotomous system [4] (Table17.1).
Vascular malformations are present at birth and
grow proportionately with the child. They are
composed of dysplastic arterial, venous, and/or
lymphatic vessels rather than proliferating cells.
The differential diagnosis between vascular
tumors and malformations can be done according
to some characteristic features (Table17.2) [16].
17 Diagnosis andTreatment ofVascular Anomalies
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Table 17.1 Classication of vascular malformations and concomitant MRI aspects
Vascular tumor Vascular malformation
Hemangioma Venous malformation Lymphoma AV malformation
MRI morphology
Solid mass Diffuse and/or localized
tubular/nodular mass
MRI signal
T1 Isointense to muscle Isointense to muscle Hyperintense to muscle Isointense to muscle
T2 Hyperintense to muscle Hyperintense to muscle Intense/hyperintense to
T1* Intense/hyperintense to
muscle and ow voids
MRI ow characteristics
Fast ow – – Fast ow
– Slow ow – Fast ow
Table 17.2 Differential diagnosis between vascular tumors and malformations
Hemangioma Vascular anomalies
• Present at birth, diagnosed early
• Characteristic growth pattern
– Rapid growth until 6–8 month
– Down slowing early childhood
– Involution 5–9years
• Biological characteristics
– Neoplastic growth
– Increased endothelial cell turnover
• Osseous involvement rare
• Female to male ratio 5:1
• Commonly low ow pattern
• Usually treatment not needed
Intense/hyperintense to
muscle
• Present at birth, often diagnosed later
• Slow growth, Characteristic growth pattern
– Accelerated growth possible (infection, trauma, hormonal
– No involution
• Biological characteristics
– Flow induced growth
– Recruitment of collateral vascular supply
• Osseous involvement in about one third patients
• Female to male ratio 2:1
• Low ow or high ow pattern in dependence of type
• Treatment commonly needed
Diffuse and/or localized
micro-, macro- or combined
cysts
muscle
Moderate hyperintense to
muscle
alterations)
No mass
Tubular/nodular
hyperintense
ow-voids
Moderate hyperintense
to muscle
229
Clinical Assessment
Clinical Investigation
A full clinical history should be taken, and examination performed to establish if the lesion is
symptomatic, isolated, or multiple; whether it is
stable or evolving; and the extent to which it
involves local structures, particularly the airway,
eye, or other neural structures (Table17.3). The
physician should exclude features of associated
syndromes (Table17.4, e.g., Ehlers-Danlos syndrome, Sturge-Weber syndrome, KlippelTrenaunay syndrome, and others).
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U. Meyer
Table 17.3 Clinical characteristics in vascular
anomalies
• History
– Family history
– Age at onset
– Medical history (drugs, infective diseases, immune
state)
– Birth history
• Clinical course
– Growth pattern—proportional to child, involution,
rapid-slow growth
– Bleeding
– Pain
• Clinical ndings
– Size
– Site
– Isolated or multiple
– Color
– Tenderness
– Fluctuance
– Sings of infection
– Location with concomitant risks (complicated
anomalies)
Table 17.4 Syndromes with vascular anomalies
Fast ow anomalies Low ow anomalies
• Bonnet- Dechaume-
Blanc syndrome
• Cobb syndrome
• Cowden syndrome
• Ehlers-Dalos
syndrome
• Parkes-Weber
syndrome
• Rendu-Osler- Weber
syndrome
• Adams-Oliver syndrome
• Bannayan-Riley-Ruvalcaba
syndrom
• Bean syndrome
• Beckwith-Wiedemann
syndrome
• Cutaneous capillary-venous
malformation
• Gorham stout syndrome
• Hemihyperplasia multiple
lipomatosis syndrome
• Klippel-Trenaunay syndrome
• Mafucci syndrome
• Nova syndrome
• Phakomatosis
pigmentovascularis syndrome
• Proteus syndrome
• Servelle-Martorell syndrome
• Sturge-Weber syndrome
Radiological Investigation
Imaging plays a crucial role to classify vascular
malformations according to their dominant vessel type, anatomical extension, and ow pattern
[17–19]. Several imaging concepts including
color-coded Duplex ultrasound/contrastenhanced ultrasound (CDUS/CEUS), 4D computed tomography angiography (CTA),
magnetic resonance imaging (MRI) including
dynamic contrast-enhanced MR angiography
(DCE- MRA) (Fig. 17.3), and conventional
arterial and venous angiography are established
in the current clinical routine [20–27]. Imaging
should be able to assess the exact ow dynamics to differentiate the various types of vascular
malformations (fast- ow vs. slow-ow lesions),
as to date there is a high rate of misdiagnosis. In
addition, the anatomical extent with tissue
involvement and affected compartments should
be precisely demonstrated for an interdisciplinary and multimodal treatment planning
(Fig.17.4).
Genetic Testing
Genetic testing based on a targeted nextgeneration sequencing (NGS) approach is playing a major role in facilitating the clinical
diagnosis of vascular anomalies by identifying
the causative variants responsible for a given
phenotype [28]. NGS-based tests have high
throughput and are fast, easy to implement
according to state-of-the-art knowledge, and
relatively inexpensive. The efciency of targeted
NGS is particularly important for vascular
anomalies because of their complex inheritance
pattern [29–42]: most have sporadic onset due to
somatic mutations or a second-hit mechanism,
but cases with dominant (inherited or de novo
mutations) and recessive inheritance have been
reported. Prompt identication of possible genes
involved in uncertain phenotypes and complex
cases is of huge value for optimal clinical management, monitoring, and treatment of patients.
Genetic diagnosis also provides important data
for dening genotype-phenotype correlations.
Targeted NGS is indeed the best approach for the
analysis of disorders with complex phenotypes
and genetics [28].
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