The acronym CHILD stands for the symptoms of the syndrome:

- CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected.

- I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red, inflamed patches (erythroderma), and flaky scales (ichthyosis) on the side of the body that is affected. Hair loss on the same side may also be possible.

- LD - limb defects—Fingers on the hand or toes on the foot of the affected side may be missing. An arm or leg may also be shortened or even missing.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.

The acronym was introduced in 1980.

Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.

Naegeli syndrome is similar to dermatopathia pigmentosa reticularis, both of which are caused by a specific defect in the keratin 14 protein.

Since the original identification of Schimmelpenning syndrome, the number of findings has expanded to the point that the syndrome is associated with a considerable constellation of abnormalities. The abnormalities may occur in a variety of combinations, and need not include all three aspects of the classic triad of sebaceous nevus, seizures and mental retardation. In 1998, a literature review by van de Warrenburg et al. found:

- seizures in 67% of cases

- mental retardation in 61% of cases

- ophthalmological abnormalities in 59% of cases

- involvement of other organ systems in 61% of cases

- structural abnormality of cerebrum or cranium in 72% of cases

The major neurological abnormalities include mental retardation to varying extent, seizures, and hemiparesis. Seizures, when present, typically begin during the first year of life. The most common structural central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipselateral gyral malformations.

The major ocular abnormalities are colobomas and choristomas.

Skeletal abnormalities may include dental irregularities, scoliosis, vitamin D-resistant rickets and hypophosphatemia. Cardiovascular abnormalities include ventricular septal defect and co-arctation of the aorta; urinary system issues include horseshoe kidney and duplicated urinary collection system.

Nevus comedonicus syndrome is a cutaneous condition characterized by a nevus comedonicus associated with cataracts, scoliosis, and neurologic abnormalities.

Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system.

Synonyms include: "Linear nevus sebaceous syndrome (LNSS)", "Schimmelpenning-Feuerstein-Mims syndrome", "Feuerstein-Mims syndrome", "sebaceous nevus syndrome", "Solomon syndrome", and "Jadassohn's nevus phakomatosis". "Nevus" is sometimes spelled "naevus" and "sebaceous" may also be spelled "sebaceus". "Epidermal nevus syndrome" is sometimes used as a synonym, but more often as a broader term referring to Schimmelpenning syndrome in addition to nevus comedonicus syndrome, CHILD syndrome, Becker's nevus syndrome, and phakomatosis pigmentokeratotica.

The classic Schimmelpenning syndrome diagnosis comprises a triad of sebaceous nevi, seizures, and mental retardation. The condition was first reported by Gustav Schimmelpenning in 1957 and independently reported by Feuerstein and Mims in 1962.

Pigmented hairy epidermal nevus syndrome is a cutaneous condition characterized by a Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis.

Nevus psiloliparus is a cutaneous condition, a rare scalp anomaly characterized by a variable degree of alopecia and an excessive amount of adipose tissue.

It is the main hallmark of encephalocraniocutaneous lipomatosis (ECCL), otherwise known as Haberland syndrome.

Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon's syndrome") is a rare disease that was first described in 1968, and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system, and eyes. However, since the syndrome's first description, a broader concept for the "" syndrome has been proposed, with at least six types being described:

Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus. It is an unusual variant of epidermal naevus syndrome. It was first described by Happle "et al". It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.

Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. But it is a dangerous skin disease as it resides in the body rest of life, it can lead to death. They are reminiscent of those of Bibendum, the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects.

It was originally described by Ross in 1969.

Twenty cases of this disorder have been reported.

People with visible marks generally feel fine (physically) and can act normally, but when it is mentioned, they may become withdrawn and self-conscious. Some children may have low self-esteem due to the condition.

CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network.

Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma, nevus anemicus, café-au-lait spots, melanocytic nevus, aplasia cutis and acral cyanosis.

It has a marbled bluish to deep-purple appearance. The dark skin lesions often show a palpable loss of dermal substance. The reticulated mottling frequently appears more prominent in a cold environment (physiologic cutis marmorata), but tends not to disappear with warming. Hence, the erythema may be worsened by cooling, physical activity, or crying.

CMTC frequently involves the extremities, with the lower extremities involved most commonly, followed by the upper extremities, and then the trunk and face. The lower extremities often show atrophy and seldom show hypertrophy resulting in limb circumference discrepancy.

When located on the trunk, the lesions of CMTC tend to show mosaic distribution in streaks with a sharp midline demarcation seen across the abdomen. The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance. Diffuse involvement of the skin is usually not observed.

Although its course is variable, the majority of lesions in mild cases fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the neonatal period.

Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus", or "Bean syndrome") is a rare disorder that consists mainly of abnormal blood vessels affecting the gastrointestinal tract.

It was characterized by William Bean in 1958. BRBNS is caused by somatic mutations in the TEK (TIE2) gene.

Becker's nevus (also known as "Becker's melanosis", "Becker's pigmentary hamartoma", "nevoid melanosis", and "pigmented hairy epidermal nevus") is a skin disorder predominantly affecting males. The nevus can be present at birth, but more often shows up around puberty. It generally first appears as an irregular pigmentation (melanosis or hyperpigmentation) on the torso or upper arm (though other areas of the body can be affected), and gradually enlarges irregularly, becoming thickened and often hairy (hypertrichosis). The nevus is due to an overgrowth of the epidermis, pigment cells (melanocytes), and hair follicles. This form of nevus was first documented in 1948 by American dermatologist Samuel William Becker (1894–1964).

Some or all of the following may be seen in someone with Gorlin syndrome:

1. Multiple basal-cell carcinomas of the skin

2. Keratocystic odontogenic tumor: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).

3. Rib and vertebrae anomalies

4. Intracranial calcification

5. Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)

6. Distinct faces: frontal and temporoparietal bossing, hypertelorism, and mandibular prognathism

7. Bilateral ovarian fibromas

8. 10% develop cardiac fibromas

BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It carries significant potential for serious bleeding. Lesions are most commonly found on the skin and in the small intestine and distal large bowel. It usually presents soon after birth.

Mucinous nevus (also known as "Nevus mucinosus") is a rare cutaneous condition characterized by hamartoma that can be congenital or acquired.

It presents itself in the mouth, most frequently as a thick, bilateral, symmetrical white plaques with a spongy, corrugated or velvety texture. Most usually, the lesions are on the buccal mucosa, but sometimes on the labial mucosa, alveolar ridge, floor of the mouth, ventral surface of the tongue or soft palate. The gingival margin and dorsum of the tongue are almost never affected. Less commonly, sites outside the mouth are affected, including the nasal, esophageal, laryngeal, anal and genital mucosae. It usually is present from birth, or develops during childhood. Rarely, the lesions may develop during adolescence. Apart from the appearance of the affected areas, there are usually no other signs or symptoms.

Cutis marmorata telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised and described in 1922 by Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition - Van Lohuizen Syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome.

It should not be confused with the more general term "cutis marmorata", which refers to livedo reticularis caused by cold.

Nevus flammeus may be divided as follows:

- Nevus flammeus nuchae

- Midline nevus flammeus

Nevus of Ota (also known as "congenital melanosis bulbi", "nevus fuscoceruleus ophthalmomaxillaris", "oculodermal melanocytosis", and "oculomucodermal melanocytosis") is a blue hyperpigmentation that occurs on the face. It was first reported by Dr. M.T. Ota of Japan in 1939.

Nevus of Ota is caused by the entrapment of melanocytes in the upper third of the dermis. It is found on the face unilaterally and involves the first two branches of the trigeminal nerve. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). It should not be confused with Mongolian spot, which is a birthmark caused by entrapment of melanocytes in the dermis but is located in the lumbosacral region. Women are nearly five times more likely to be affected than men, and it is rare among Caucasian people. Nevus of Ota may not be congenital, and may appear during puberty.

Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Common features used to define BWS are:

- macroglossia (large tongue),

- macrosomia (above average birth weight and length),

- microcephaly

- midline abdominal wall defects (omphalocele/exomphalos, umbilical hernia, diastasis recti),

- ear creases or ear pits,

- neonatal hypoglycemia (low blood sugar after birth).

- Hepatoblastoma

AMS has been described by multiple authors and institutions, and various definitions have been adopted. According to Newton et al., a scoring system allotting one point per feature establishes AMS with scores greater than or equal to 3. The features include: 1) two or more clinically atypical nevi, 2) more than 100 nevi in patients between 20 and 50 years of age, 3) more than 50 nevi in patients under 20 years of age or more than 50 years of age, 4) more than one nevus in buttocks or instep, 5) nevi on the anterior scalp, 6) one or more pigmented lesions in the iris.

The Classical (1990) definition uses the following criteria: 1) 100 or more melanocytic nevi, 2) one or more melanocytic nevi greater than or equal to 8mm in its largest diameter, and 3) one or more clinically atypical melanocytic nevi.

The National Institutes of Health (NIH) Consensus 1992 definition, which is still controversial, requires a family history of melanoma, in addition to a large number of melanocytic nevi (often greater than 50) and melanocytic nevi that present certain histological features.

Linear and whorled nevoid hypermelanosis (also known as "Linear nevoid hyperpigmentation," "Progressive cribriform and zosteriform hyperpigmentation," "Reticulate and zosteriform hyperpigmentation," "Reticulate hyperpigmentation of Iijima and Naito and Uyeno," "Zebra-like hyperpigmentation in whorls and streaks," and "Zebra-line hyperpigmentation") is a disorder of pigmentation that develops within a few weeks of birth and progresses for one to two years before stabilizing. There is linear and whorled hyperpigmentation following the lines of Blaschko without preceding bullae or verrucous lesions. It is important to exclude other pigmentary disorders following the Blaschko lines before making a diagnosis of linear and whorled nevoid hypermelanosis.The differential diagnoses include incontinentia pigmenti, linear epidermal nevus, hypomelanosis of Ito and Goltz syndrome. Recently, a case of linear and whorled nevoid hypermelanosis was reported in a Malaysian Chinese girl.

Nevoid melanoma is a cutaneous condition that may resemble a Spitz nevus or an acquired or congenital melanocytic nevus.