Pediatric Examination and Board Review (207 page)

(B) “we need a dermatology consult”

(C) “these lesions will most likely fade with time”

(D) “the baby needs to be transferred to the intensive care unit for observation and further workup”

(E) “these skin lesions are not specific to any particular disease”

2.
Café au lait macules (CALMs) are most prevalent in which racial/ethnic group?

(A) Asian

(B) African American

(C) White

(D) Hispanic

(E) Native American

3.
You suspect neurofibromatosis (NF)-1. Which physical finding would you expect to see in the newborn period to help make the diagnosis?

(A) plexiform neurofibromas

(B) abdominal mass

(C) bilateral cryptorchidism

(D) Crowe sign

(E) cataracts

4.
Juvenile xanthogranulomas in patients with NF-1 are associated with an increased risk for developing

(A) chronic myeloid leukemia

(B) vestibular schwannomas

(C) Wilms tumor

(D) coronary artery disease

(E) fulminant hepatic failure

5.
You recall examining another young girl with similar skin lesions. You recently saw her in your clinic for a 3-year-old routine health maintenance visit. At that time the mother complained of axillary hair in her daughter. You notice, on examination, Tanner III pubarche and an 8- × 8-cm hyperpigmented macule with a very jagged border on her chest. Which study would help you make the diagnosis?

(A) magnetic resonance imaging (MRI) of the brain

(B) skeletal x-rays

(C) computed tomography (CT) of the abdomen

(D) karyotyping

(E) skin biopsy of the hyperpigmented macule

6.
Hemangiomas are another common dermatologic finding in newborns. The least accurate statement about hemangiomas of infancy is

(A) hemangiomas in the midline spinal region may be associated with neural tube defects

(B) hemangiomas have an increased risk for malignant transformation

(C) hemangiomas can rarely cause consumptive coagulopathy

(D) multiple cutaneous hemangiomas may be associated with internal hemangiomas

(E) they are vascular tumors

7.
You are asked to evaluate a 2-day-old girl in the NICU who has a large facial hemangioma. On examination, you note absent femoral pulses and abnormal red reflexes in both eyes. Which of the following is also associated with these clinical findings?

(A) supernumerary digits

(B) sternal clefting

(C) clitoromegaly

(D) torticollis

(E) developmental dysplasia of the hips

8.
Infants with eyelid hemangiomas are most at risk for

(A) seizure disorders

(B) vision problems

(C) learning disabilities

(D) ipsilateral intracranial calcifications

(E) neural tube defects

ANSWERS

1.
(E)
These hyperpigmented macules most likely are CALMs, which tend to be uniformly hyperpigmented discrete macules that get larger during childhood. They are not specific for any particular syndrome and often are incidental findings with no medical significance. However, the greater the number of CALMs, the more likely there will be an associated physical finding. Histologically, these macules have giant melanosomes in the melanocytes and basal keratinocytes.

2.
(B)
The frequency of CALMs is 0.1% in Jewish, 0.3% in white, 0.4% in Chinese, 0.5% in Arab, 3% in Hispanic, and 18% in African American newborns.

3.
(D)
In newborns with NF-1, CALMs and the Crowe sign are the first manifestations. Neurofibromas tend to appear later in childhood. To make the diagnosis of NF-1, at least two of these seven criteria must be met:

1. CALMs →>6 in number
AND
>5 mm in diameter in prepubertal patients or >15 mm in postpubertal patients

2.
Axillary or inguinal freckling (Crowe sign)

3. Neurofibromas

4. Lisch nodules (pigmented hamartomatous nevi)

5. Optic nerve glioma

6. Osseous lesion

7. First-degree relative with NF-1

A plexiform neurofibroma (2 or more neurofibromas networked together) is pathognomonic for NF-1, whereas a solitary/single neurofibroma is not. Typical osseous lesions include sphenoid bone dysplasia or dysplasia of the long bone cortex. There is a high (up to 50%) rate of developing NF-1 without any familial or genetic predisposition.

4.
(A)
Vestibular schwannomas are associated with NF-2. Wilms tumor is found in aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) and Beckwith-Wiedemann syndrome. Juvenile chronic myelogenous leukemia is primarily referred to as juvenile myelomonocytic leukemia.

5.
(B)
The macule described is a so-called coast of Maine CALM that is commonly seen in McCune-Albright syndrome. Typical CALMs are described as having a “coast of California” appearance. McCune-Albright syndrome has three findings: coast of Maine CALM, endocrine hyperfunction (typically manifested as precocious puberty), and polyostotic fibrous dysplasia, which can be seen on skeletal radiographs.

6.
(B)
Hemangiomas are the most common vascular tumor in the newborn period. They are benign vascular tumors that tend to have a vigorous proliferative phase in the first year of life followed by a slow involution period throughout childhood. There is no risk of malignant transformation, unlike that posed by a congenital melanocytic nevi, but hemangiomas may cause functional compromise or cosmetic disfigurement depending on their size and location. Hemangiomas in the diaper area may ulcerate, become painful, and/or may become infected. Visible hemangiomas in the “beard distribution” are associated with subglottic hemangiomas, which may lead to respiratory compromise as they enlarge. visible hemangiomas in the midline back may have associated neural tube defects. Kasabach-Merritt syndrome is associated with large hemangiomas that cause trapping of platelets that may lead to consumptive coagulopathy. Multiple hemangiomas may suggest the presence of visceral hemangiomas (neonatal hemangiomatosis).

7.
(B)
The patient described most likely has PHACE(S) syndrome, which has a female predominance. This acronym refers to the following constellation of findings:

P
osterior fossa malformations

H
emangiomas

A
rterial anomalies

C
oarctation of the aorta and other cardiac

malformations

E
ye abnormalities

S
ternal clefting

8.
(B)
Periorbital hemangiomas may directly compress the eye causing astigmatism and visual impairment. If the periorbital finding was a port wine stain (vascular malformation) instead of a hemangioma (vascular tumor), you might consider Sturge-Weber syndrome as a possibility. Sturge-Weber syndrome is a neurocutaneous syndrome consisting of a port wine stain involving the ophthalmic branch of the trigeminal nerve, leptomeningeal involvement, and ipsilateral eye abnormalities (cataracts, glaucoma, buphthalmoses, etc). Learning disabilities and seizures are common in Sturge-Weber syndrome. Hemangiomas in the midline of the back are associated with neural tube defects.

S
UGGESTED
R
EADING

Hernandez JA, Morelli JG. Birthmark of potential medical significance.
NeoReviews.
2003;4:c263-c268.

Raygada M, Arthur DC, Wayne AS, Rennert OM, Toretsky JA, Stratakis CA. Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
. 2010;54(1): 173-175.

Tekin M, Bodurtha JN, Riccardi VM. Cafe au lait spots: the pediatrician’s perspective.
Pediatr Rev.
2001;22;82-89.

Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis.
Arch Dermatol.
1995;131(8):904-908.

CASE 117: A TERM NEONATE NEEDS AN INITIAL EXAMINATION

A healthy term African American baby girl is born vaginally without instrumentation after a 12-hour labor. You examine her at 2 hours of life.

SELECT THE ONE BEST ANSWER

1.
You note that her head is “cone shaped,” and there is an ecchymosis and swelling of the scalp at the vertex. When you apply pressure with your finger, an imprint is left. This condition is most likely a

(A) cephalhematoma

(B) subgaleal hematoma

(C) caput succedaneum

(D) A or B

(E) none of the above

2.
The following day, you note a swelling over the right parietal area of the scalp that feels fluctuant. This is most likely a

(A) cephalhematoma

(B) subgaleal hematoma