*4.4.2.1. Management*

No treatment is recommended, as Mongoloid spots generally disappear spontaneously at the age of 1–4 years, most frequently in the first year of life. If they do not disappear until puberty, they remain permanent, a situation that occurs in approximately 5% of cases [51].

**Figure 10.** Mongoloid spot – Lumbosacral region.

## *4.4.3. Cutis marmorata telangiectatica congenita*

Mongoloid Spots represent an agglomeration of dermal melanocytes and is not a clinical sign

Depending on the location of melanocytes on the surface of the skin, the coloration of the Mongoloid Spots change. If they are superficially located, the color of the spots is brown, and

Mongoloid Spots are most commonly diagnosed at birth due to specific coloration and localization, and no additional investigation methods are required. They are found with a frequency of 90% in the black population and the Native Americans, in about 80% of Asian infants, 70% of Hispanic individuals and in a reduced proportion of 5–10% of Caucasian children [48, 49]. Incidence is lower in preterm infants compared to full-term infants, and in terms of gender

Most spots are located on the buttocks, lumbosacral (**Figure 10**), deltoid and dorsal region, on the limbs and in rare cases on the face or on the occipital region. There may be single or

No treatment is recommended, as Mongoloid spots generally disappear spontaneously at the age of 1–4 years, most frequently in the first year of life. If they do not disappear until puberty,

they remain permanent, a situation that occurs in approximately 5% of cases [51].

the deeper they are, the color tends more and more to have a blue shade [48, 49].

associated with a disease or syndrome.

520 Congenital Anomalies - From the Embryo to the Neonate

distribution, the incidence is higher in boys.

**Figure 10.** Mongoloid spot – Lumbosacral region.

*4.4.2.1. Management*

multiple spots, ranging in size from 1 to 2 cm to tens of cm [50].

Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that manifests itself by affecting the blood vessels of the skin by alternating a vascular network with a vasodilation and vasoconstriction process which gives the skin a marbled appearance. It is accentuated by cold temperatures, but it does not disappear when exposed to warmer temperatures [52].

It should not be confused with Cutis Marmorata, which is a normal, adaptive, physiological response of the newborn to exposure to low temperatures. This disorder is due to a neurological and vascular immature system, it varies between the constriction and dilation of blood vessels, and it occurs most frequently in the hands and feet.

Very few cases of cutis marmorata telangiectatica congenita have been reported worldwide less than 100 cases [53], but in reality it is more common than that. Mild forms are not that rare, but they are not reported [54].

**The pathophysiological mechanisms** are still unclear, with most cases occurring sporadically, although rare cases were reported in some families. Studies indicate the primary involvement of capillaries, venules and veins, and possibly arterioles and lymphatic vessels.

The hypothetical mechanisms that have been proposed are environmental factors, peripheral neural dysfunctions, failure of the development of mesodermic vessels in an early embryonic stage and autosomal dominant inheritance with incomplete penetrance [52, 55].

**Diagnosis**: skin manifestations may be associated with the asymmetry of extremities, macrocephaly, glaucoma, cutaneous atrophy, chronic skin ulcerations, neurological anomalies, vascular anomalies (nevus flammeus, Sturge–Weber syndrome, Klippel-Trénauna syndrome, Adams Oliver syndrome), psychomotor and /or mental retardation [56].

**Management**: in general, there is no treatment for this condition, but the associated anomalies can be treated. In the case of limb asymmetry, without motor dysfunction, there is the possibility of inserting an "elevation" device for the shorter leg during early childhood. Laser therapy has not been successful in the treatment of this vascular skin disorder, possibly due to many dilated capillaries and veins in the deep layers of the skin.

**Prognosis**: the prognosis is favorable in most cases, when patients experience an isolated cutaneous abnormality. In most cases, the marbled appearance regresses spontaneously during the first year of life due to the normal maturation process, with the thickening of the epidermis and dermis. In fewer cases, lesions can continue for up to 10 years or throughout the patient's life.

#### *4.4.4. Pigmentary nevi*

Pigmentary nevi, also known as melanocytic nevi, are benign neoplasms present from birth congenital melanocytic nevi may develop throughout life.

Pigmentary nevi appear with a high frequency as uniform, beige, brown or skin-color formations, sometimes protruding, circular or oval, with regular, smooth, well-defined margins, of 6 mm in diameter [57, 58].

Histopathologically, they are cellular (melanocyte) benign clusters that change very little in life, have a slow growth, and never invade the surrounding tissues. The number of nevi is influenced both genetically - the family history is very important - and from the sun exposure of the infant [59].

Congenital pigmentary nevi over 20 cm in diameter have an increased risk of malignancy.

Pigmentary nevi are commonly diagnosed clinically or using the dermatoscope.

The management of pigmentary nevi depends on the type of nevus and the degree of uncertainty of the diagnosis. Benign ones require nothing else than monitoring after the neonatal period [60, 61], while those with special characteristics - asymmetry, uneven, irregular margins, color variations, diameter > 6 mm - very rare cases, require biopsy with histopathology, immunohistochemistry and electron microscopy [57, 62].
