Photo Quiz

Generalized Brownish Macules in Infancy



FREE PREVIEW Log in or buy this issue to read the full article. AAFP members and paid subscribers get free access to all articles. Subscribe now.


FREE PREVIEW Subscribe or buy this issue. AAFP members and paid subscribers get free access to all articles.

Am Fam Physician. 2009 Nov 1;80(9):987-988.

A six-month-old girl presented with brownish macules all over her body (Figures 1 and 2). The child's mother reported that the macules, which appeared at birth, became red and swollen when scratched or rubbed, and decreased in size as the child grew. The pregnancy and birth were normal, and the child had no family history of skin lesions or cancers. The child's workup at birth was unremarkable, and her development was progressing normally.

Figure 1.

View Large


Figure 1.


Figure 1.

Figure 2.

View Large


Figure 2.


Figure 2.

On physical examination, the patient was active, responded appropriately to visual and auditory stimuli, and had normal vital signs. The oval to round skin lesions were approximately 0.5 to 1.5 cm in diameter, had well-demarcated borders, and involved all skin areas except the soles, palms, and mucous membranes.

Question

Based on the patient's history and physical examination, which one of the following is the most likely diagnosis?

A. Neurofibromatosis 1.

B. Peutz-Jeghers syndrome.

C. Urticaria pigmentosa.

D. Xeroderma pigmentosum.

Discussion

The answer is C: urticaria pigmentosa. Urticaria pigmentosa is a type of cutaneous mastocytosis characterized by aggregates of mast cells in the dermis, leading to the development of dark yellow to brown macules.1 Mastocytosis encompasses a spectrum of disorders that range from a solitary cutaneous nodule to diffuse infiltration of skin with involvement of other organs.2 Urticaria pigmentosa is a common type of mastocytosis in children and is considered a hyperplastic, rather than a neoplastic, disorder.1,2 There are two types of urticaria pigmentosa. In the classic type (infantile onset), lesions are present at birth or erupt during the first two years of life.1 Lesions may be macular, nodular, papular, vesicular, or bullous and often have a symmetric distribution.1 The palms and soles are spared.2 Rubbing the lesions usually produces erythema and whealing (Darier sign). Dermographism of normal skin is often present.1 Histopathology of the skin lesions confirms the diagnosis.2 The nonclassic type (adult onset) is caused by a mutation of a stem cell factor.1 The lesions are similar to the classic type and may develop at any time from infancy to adulthood. The lesions do not resolve, new lesions continually develop, and systemic involvement is more common.1

Clinical manifestations of mastocytosis depend on the organ or systems affected. Cutaneous manifestations may include pruritus, episodic flushing, and the characteristic rash.1 Pruritus may be exacerbated by changes in climate, skin friction, spicy foods, ethanol, exercise, stinging insects, radiocontrast media, infections, and use of aspirin or other medications.3 Patients with the classic type have a good prognosis, often with spontaneous resolution of lesions by four years of age.1

A bone marrow biopsy should be performed in patients with urticaria pigmentosa if peripheral blood findings are abnormal or if the nonclassic type is suspected.3

Neurofibromatosis 1 is an autosomal dominant disease affecting neural crest–derived cells. It is characterized by café au lait spots and other light-colored to brown macules, and is associated with multiple neural tumors.4 The macules may be present at birth, and usually increase in size and number with age.

Peutz-Jeghers syndrome is an autosomal dominant disease characterized by melanotic macules on the lips and mucous membranes with gastric polyposis.1 The pigmented macules, which begin to appear in infancy, can be up to 2 cm in size.1 Lesions may develop on the hands, feet, nose, and around the eyes and umbilicus.1

Xeroderma pigmentosum is an autosomal recessive disease affecting sun-exposed skin, such as on the face, arms, and legs. Skin changes may occur in infancy and include reddening with scaling; freckling; and irregular dark spots, which may be premalignant.1

Selected Differential Diagnosis of Brown Macules in Infancy

Condition Characteristics

Neurofibromatosis 1

Café au lait spots or other light-colored to brown macules; associated with multiple neural tumors; macules usually increase in size and number with age

Peutz-Jeghers syndrome

Melanotic macules, usually on the lips and mucous membranes, with gastrointestinal polyposis; macules may develop on the hands, feet, nose, and around the eyes and umbilicus; macules are up to 2 cm in size

Urticaria pigmentosa

Macular, nodular, or popular lesions ranging in color from dark yellow to brown; often symmetrically distributed; erythema and whealing (Darier sign); dermographism of normal skin is often present

Xeroderma pigmentosum

Affects sun-exposed skin, such as on the face, arms, and legs; reddening of the skin with scaling; freckling; irregular dark spots, which may be premalignant

Selected Differential Diagnosis of Brown Macules in Infancy

View Table

Selected Differential Diagnosis of Brown Macules in Infancy

Condition Characteristics

Neurofibromatosis 1

Café au lait spots or other light-colored to brown macules; associated with multiple neural tumors; macules usually increase in size and number with age

Peutz-Jeghers syndrome

Melanotic macules, usually on the lips and mucous membranes, with gastrointestinal polyposis; macules may develop on the hands, feet, nose, and around the eyes and umbilicus; macules are up to 2 cm in size

Urticaria pigmentosa

Macular, nodular, or popular lesions ranging in color from dark yellow to brown; often symmetrically distributed; erythema and whealing (Darier sign); dermographism of normal skin is often present

Xeroderma pigmentosum

Affects sun-exposed skin, such as on the face, arms, and legs; reddening of the skin with scaling; freckling; irregular dark spots, which may be premalignant

Address correspondence to Arthur Anthony Islas, MD, at arthur.islas@ttuhsc.edu. Reprints are not available from the authors.

Author disclosure: Nothing to disclose.

REFERENCES

1. Diseases of the dermis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa.: Saunders; 2007.

2. Urticaria and angioedema. In: Habif TP, ed. Clinical Dermatology: A Color Guide to Diagnosis and Therapy. 4th ed. St. Louis, Mo.: Mosby; 2004.

3. Mastocytosis. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa.: Saunders; 2007.

4. Mendelian disorders. In: Kumar V, Abbas AK, Fausto N, Aster JC, eds. Robbins and Cotran Pathologic Basis of Disease. 8th ed. Philadelphia, Pa.: Saunders; 2007.

Contributing editor for Photo Quiz is John E. Delzell, Jr., MD, MSPH.

The editors of AFP welcome submissions for Photo Quiz. Guidelines for preparing and submitting a Photo Quiz manuscript can be found in the Authors' Guide at http://www.aafp.org/afp/photoquizinfo. To be considered for publication, submissions must meet these guidelines. E-mail submissions to afpphoto@aafp.org.


Copyright © 2009 by the American Academy of Family Physicians.
This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Contact afpserv@aafp.org for copyright questions and/or permission requests.

Want to use this article elsewhere? Get Permissions


Article Tools

  • Print page
  • Share this page
  • AFP CME Quiz

Information From Industry

More in AFP

More in Pubmed

Navigate this Article