Head and Neck Lesions

CHAPTER	8
HEAD AND NECK LESIONS

Cephalohematoma/Caput

Synonym	n/a
Inheritance	None.
Prenatal Diagnosis	May be seen on ultrasound prenatally, around 30 weeks of gestation, or intrapartum.
Incidence	2 in 100 births.
Age at Presentation	At birth.
Pathogenesis	Cephalohematoma: Rupture of blood vessels beneath the periosteum but above bone; secondary to vacuum extraction or use of forceps during delivery but can occur in utero. Caput succedaneum: Rupture of blood vessels or collection of serosanguinous fluid above the periosteum; secondary to vacuum extraction or prolonged pressure of the head on the maternal pelvis.
Key Features	Cephalohematoma: Edematous swelling on the scalp; does not cross the suture line of the skull. Caput succedaneum: Edematous swelling on the scalp; crosses the suture line of the skull; may see alopecia.
Differential Diagnosis	Subgaleal hemorrhage, aplasia cutis congenita (ACC), and cephalocele.
Laboratory Data	Ultrasound; if appears fluctuant and infected, needle aspiration and culture with or without a CT or MRI to assess bony involvement.
Management	Observation: If infected, consider incision and drainage; may require debridement if bone involved followed by antibiotics.
Prognosis	Cephalohematoma: Resolves spontaneously in a few weeks; rare risk for calcifications of hematoma causing skull deformities; very rare risk for skull fracture, secondary infection, including meningitis, osteomyelitis, or sepsis. Caput succedaneum: Resolves spontaneously in a week; if alopecia present, may regrow; rare risk for annular ring of scarring alopecia (“halo ring”); very rare risk for secondary infection or scarring.

PEARL/WHAT PARENTS ASK

Benign course in the vast majority of cases. Scarring sequelae associated with premature or prolonged rupture of membranes. Calcification develops if the cephalohematoma does not resolve after about 4 weeks. Intracranial hemorrhage is associated with cephalohematoma-related skull fracture.

Skin

Associated Findings

Aplasia Cutis Congenita

Synonym	ACC.
Inheritance	Sporadic.
Prenatal Diagnosis	None.
Incidence	1 in 10,000 births.
Age at Presentation	At birth.
Pathogenesis	Unclear. It has been associated with multiple genetic syndromes, infections, medications, and vascular events; possible incomplete closure of neural tube or embryonic fusion lines; among familial cases, autosomal dominant association with mutations in ribosomal GTPase BMS1.
Key Features	Skin: Focal absence of skin (epidermis and dermis) without inflammation; may involve fat or bony structures, usually solitary but rare variants of multiple symmetrical lesions; membranous subtype (most common) will have small well-demarcated round or oval lesions covered with a membrane, sometimes with a collar of hair; midline vertex scalp, most common, can be off-midline on the parietal scalp, rarely on the trunk and extremities; nonmembranous subtype, large, irregular or stellate ulcer, most commonly on the midline scalp.
Differential Diagnosis	Trauma, nevus sebaceous, epidermolysis bullosa, congenital varicella, herpes simplex, and Goltz syndrome.
Laboratory Data	Ultrasound or radiography to look for skull defects; skin biopsy at birth (though not necessary) shows absence of epidermis, dermal appendages, and elastic tissue; biopsy in infancy shows atrophic epidermis, dermal fibrosis, and no adnexal structures.
Management	Gentle cleanser, petrolatum emollient to prevent desiccation until healed; surgical repair of large defects; topical application of fibroblast growth factor can accelerate healing.
Prognosis	Good for small defects; larger lesions are associated with skull defects, infection, and underlying vascular anomalies.

PEARL/WHAT PARENTS ASK

Membranous subtype is the most common. Nonmembranous subtype is more likely associated with bony defects. It can be associated with Trisomy D (aka Patau syndrome or Trisomy 13), Opitz, Adams-Oliver, SCALP syndrome, Johannson-Blizzard, and Oculocerebrocutaneous/Delleman. It may take up to 8 months to heal.

Skin

Associated Findings

8.2. *Aplasia cutis congenita. Courtesy of Scott Norton, M.D.*

8.3. *Aplasia cutis congenita. Courtesy of Scott Norton, M.D.*

Nevus Sebaceous

Synonyms	Organoid nevus, nevus sebaceous of Jadassohn, and nevus sebaceous.
Inheritance	Sporadic; rare familial.
Prenatal Diagnosis	None.
Incidence	30 in 10,000 births.
Age at Presentation	At birth.
Pathogenesis	Postzygotic somatic HRAS or KRAS mutations in the epidermis causing congenital hamartoma of sebaceous glands, ectopic apocrine glands, and hair follicles.
Key Features	Predominantly face and scalp but any part of the skin surface can be affected; round, oval, or linear well-demarcated plaque without hair; usually solitary and small but extensive lesions along the lines of Blaschko may occur; at birth, pink erythematous and thickened although may be brownish-yellow in infants with dark pigmentation; after 3 months, the erythema fades to yellow-orange in Caucasians and hyperpigmented brown in skin of color, and flattens; in adolescence, thickens and may become warty-appearing.
Differential Diagnosis	Aplasia cutis, juvenile xanthogranuloma, epidermal nevus, syringocystadenoma papilliferum, cutaneous mastocytoma, and meningocele.
Laboratory Data	Skin biopsy, if clinically uncertain.
Management	Observation: Large and/or disfiguring lesions should be evaluated by plastic surgery.
Prognosis	Less than 20% will develop a benign or malignant tumor; most tumors will be benign, such as a trichoblastoma, sebaceoma, and hydrocystoma; most common associated finding in children is a wart; rare risk for malignant transformation, approximately 0.8% or less, and include basal cell carcinoma, microcystic adnexal carcinoma, and squamous cell carcinoma.