Ernesto Bonifazi - Differential diagnosis in pediatric dermatology

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Ernesto Bonifazi Differential Diagnosis in Pediatric Dermatology 10.1007/978-88-470-2859-3_1

Springer-Verlag Italia 2013

Inherited Skin Disorders

Ernesto Bonifazi 1

(1)

Bari, Italy

Abstract

Caf au lait spots can be the only clinical sign of neurofibromatosis in babies. Macular mastocytosis can be characterized by brownish maculae simulating peripheral neurofibromatosis.

1. Neurofibromatosis 2. Macular Mastocytosis

Caf au lait spots can be the only clinical sign of neurofibromatosis in babies. Macular mastocytosis can be characterized by brownish maculae simulating peripheral neurofibromatosis.

	1. Neurofibromatosi	2. Macular Mastocytosis
Definition	Autosomal dominant inherited disease, initially characterized by caf au lait spots.	Benign proliferation of dermal mastocytes clinically characterized by brownish maculae.
Family history	Present in 30% of cases [].	Present in 3% of cases [].
Time of onset	Often present at birth or in the first months.	Mastocytosis is sometimes present at birth. It becomes evident in the first months of life.
Sites involved	Anywhere on the skin.	Mainly on the chest.
Darier sign	Absent.	Present, although barely evident due to the paucity of mastocytes.
Involvement of the groin region and axillary folds	Frequent.	Rare.
Lesion size	Highly variable, even within the same subject; larger lesions can exceed 5 cm; the smallest may measure less than 5 mm.	Rather uniform, usually 12 cm in diameter.
Lesion outline	Clearly defined.	Blurred.
Development	New lesions, usually smaller, appear with age. Pre-existing lesions usually persist unchanged.	No new lesions appear after the first year. Pre-existing lesions disappear in several years.

Diagnostic Summary

Neurofibromatosis : maculae of variable size with well-defined borders throughout the skin.

Macular mastocytosis : maculae with blurred borders mainly on the chest, which undergo slight urtication when rubbed.

1. Neurofibromatosis

Fig. 1

2. Macular Mastocytosis

Fig. 2

1. Recessive Dystrophic Epidermolysis Bullosa 2. Bullous Congenital Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis)

Recessive dystrophic epidermolysis bullosa and bullous congenital ichthyosiform erythroderma can be present at birth with bullous lesions, particularly at sites of trauma, and thus require a differential diagnosis.

	1. Recessive Dystrophic Epidermolysis Bullosa	2. Bullous Congenital Ichthyosiform Erythroderma
Definition	Inherited disease due to a collagen defect, with consequent post-traumatic blisters and dystrophic scars.	Inherited disease due to a keratin defect, with consequent blisters and scaling erythroderma.
Heredity	Autosomal recessive.	Autosomal dominant.
Blood blisters	Often present.	Lacking.
Blister distribution	Hands, feet, elbows, knees.	Trunk, limbs.
Mouth blisters	Often present.	Lacking.
Generalized erythema	Lacking.	Present.
Healing of blisters	Slow, with milia and scarring.	Rapid, without scarring.

Diagnostic Summary

Recessive dystrophic epidermolysis bullosa : blisters at sites of trauma, also in the oral mucosa, sometimes hematic, arising on skin initially nonerythematous.

Bullous congenital ichthyosiform erythroderma : superficial blisters on erythematous and scaling skin, sparing the mucosae.

1. Recessive Dystrophic Epidermolysis Bullosa

Fig. 1a

Fig. 1b

Same newborn as in , 10 days later

2. Bullous Congenital Ichthyosiform Erythroderma

Fig. 2a

Fig. 2b

Same newborn as in , taken 10 days later

Ernesto Bonifazi Differential Diagnosis in Pediatric Dermatology 10.1007/978-88-470-2859-3_2

Springer-Verlag Italia 2013

Nevi

Ernesto Bonifazi 1

(1)

Bari, Italy

Abstract

The two most frequent causes of localized alopecia in the newborn are aplasia cutis and a sebaceous nevus. In the former, the lack of hair is due to the scarring of the healing process, whereas in the latter, it is due to hypertrophy of the sebaceous glands, which compress the hair, making it thinner.

1. Aplasia Cutis Congenita 2. Sebaceous Nevus in the Newborn

The two most frequent causes of localized alopecia in the newborn are aplasia cutis and a sebaceous nevus. In the former, the lack of hair is due to the scarring of the healing process, whereas in the latter, it is due to hypertrophy of the sebaceous glands, which compress the hair, making it thinner.

	1. Aplasia Cutis Congenita	2. Sebaceous Nevus in the Newborn
Definition	Congenital, localized absence of epidermis, dermis and sometimes subcutaneous tissue, which heals with scarring.	Nevus with prominent involvement of the sebaceous glands.
Number of lesions	Usually single, sometimes multiple.	Usually only one.
Lesion morphology	Eroded or already scarred at birth. In the latter, the surface is smooth.	Granular.
Clinical course

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