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Image courtesy of Medscape | Dr K.E. Greer.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Various skin disorders occur specifically in childhood, and the causes range from infectious to inflammatory to congenital. Although many of these dermatologic conditions are benign and self-limited, some conditions require an extensive workup and close monitoring. This slideshow addresses the diagnosis and management of dermatoses that may be encountered in infants.

The above image shows miliaria crystallina.

Image courtesy of Medscape | Dr Ruchir Agrawal.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Milia

Milia (shown above in a week-old infant) are benign, self-limited lesions that usually appear in the first 4-5 days of life in full-term newborns. In premature infants, the onset of the lesions may be delayed for weeks or months. Milia affect 40-50% of newborn infants.[1] The lesions, which typically present as 1- to 2-mm, white cysts on the forehead, nose, upper lip, and cheeks, result when keratin and sebaceous material are retained in the pilosebaceous follicles.[2] They are referred to as Epstein pearls when present on the soft or hard palate.

Most lesions disappear without scarring by 1-2 months of age. The application of creams or ointments is not recommended.

Image courtesy of Medscape | Dr Surasak Puvabanditsin.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

The image shown demonstrates ruptured bullae on the hand of a newborn with epidermolysis bullosa simplex.

Epidermolysis Bullosa

Classification

Epidermolysis bullosa is a group of rare inherited disorders that present at birth or shortly after. These disorders are characterized by blistering or erosion of the skin in response to trauma or friction. The estimated prevalence of epidermolysis bullosa is about 11 cases per 1 million live births.[3]

The three major categories of epidermolysis bullosa are as follows[3]:

  • Epidermolysis bullosa simplex - Characterized by intraepidermal skin separation
  • Junctional epidermolysis bullosa - Characterized by skin separation at the level of the lamina lucida
  • Dystrophic epidermolysis bullosa - Characterized by separation at the sublamina densa
Image from the Centers for Disease Control and Prevention | Dr Hudson. [Public domain.]

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Diagnosis

The severity of epidermolysis bullosa may range from occasional mild blistering of the hands and feet to severe and widespread formation of bullae. Areas prone to blistering due to pressure, trauma, or excessive heating include the fingers, hands, elbows, feet (shown), and diaper area. Blisters may result in nonhealing erosions, infection, scarring, and joint contracture.

The first step in the diagnosis of epidermolysis bullosa typically involves skin biopsy for immunofluorescence. If immunofluorescence results are indeterminate, transmission electron microscopy or mutational analysis can be helpful in diagnosis. Newer diagnostic tools, including prenatal and preimplantation testing, are useful in families who have children with severe forms of epidermolysis bullosa.[4]

Image courtesy of Medscape | Dr Surasak Puvabanditsin.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

A large bulla on the elbow of a neonate with junctional epidermolysis bullosa is shown above.

Treatment

The treatment of epidermolysis bullosa is primarily preventive and supportive, involving wound care, nutritional support, infection control, and the management of complications. Wound care should involve nonadherent silicone dressings and foam dressings, which will absorb exudates from the ruptured blisters. To prevent infection, topical antiseptics, bleach baths, and antibiotics can be used. Pain control should also be part of the regimen, as affected patients experience constant pain. Nutritional support is crucial to the promotion of wound healing.[5]

Image courtesy of Medscape | Dr Surasak Puvabanditsin.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Complications

The computed tomography scan shown above demonstrates severe right-sided hydronephrosis in an infant with junctional epidermolysis bullosa. Other genitourinary complications, such as bladder distention/hypertrophy and vesicoureteral reflux, and gastrointestinal complications, including esophageal strictures, reflux, rectal tears, anal fissures/stenosis, and constipation, may occur. Delayed puberty is common in children with severe epidermolysis bullosa.[3]

Surgical correction of deformities may be necessary. Particularly common is mitten deformity, which is characterized by contractures and pseudosyndactyly of the hands that occur secondary to scarring.[5]

The most serious consequence of epidermolysis bullosa is squamous cell carcinoma (SCC). Nearly 80% of patients with dystrophic epidermolysis bullosa (particularly the recessive type) die by mid-adulthood from metastatic SCC, despite aggressive skin surveillance and surgical therapy.[6]

Junctional epidermolysis bullosa is usually fatal in infancy. Epidermolysis bullosa simplex, if localized, has a favorable prognosis, and patients typically have a normal life expectancy.[3]

Image courtesy of Medscape.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

The eye of a patient with Hermansky-Pudlak syndrome is shown above.

Albinism

Albinism consists of congenital hypopigmentary diseases that result from a defect in pigment production due to dysfunction of melanocytes in the skin, eyes, and/or ears. There are two main types of albinism: (1) oculocutaneous albinism, in which the hair, skin, and eyes are affected, and (2) ocular albinism, in which the eyes are mainly affected, with relative sparing of the skin and hair. Oculocutaneous albinism arises from any of four different gene mutations; these mutations result in absent or reduced synthesis of melanin in melanocytes of the eyes, skin, and hair.[7] Other, less common causes of albinism include Hermansky-Pudlak syndrome, Chédiak-Higashi syndrome, and Griscelli syndrome.

Complications of albinism include an increased risk of skin cancers, especially SCC, as well as impaired vision, photophobia, nystagmus, and strabismus. Patients must strictly adhere to sun protection strategies and must undergo frequent skin and ophthalmic evaluations.[8]

Image courtesy of Medscape.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Less common forms of albinism are associated with comorbidities that are not present in oculocutaneous or ocular albinism.

Chédiak-Higashi syndrome is a rare autosomal recessive disorder. In addition to albinism, it is characterized by recurrent pyogenic infections, neutropenia, progressive neurologic abnormalities, and mild coagulation defects.[9]

Hermansky-Pudlak syndrome, another rare autosomal recessive disorder, is characterized by albinism, bleeding diathesis, and pulmonary fibrosis.[10] The blond hair and pale skin of a patient with Hermansky-Pudlak syndrome are shown above.

Three types of Griscelli syndrome occur. Type 1 is characterized by severe deficits in brain function, seizures, hypotonia, vision abnormalities, and albinism. Patients with type 2 have albinism and immunodeficiency. Type 3 typically features only albinism.[11]

Image courtesy of Ntumba-Tshitenge O, Kaputu-Kalala-Malu C, Mukampunga C, Mukendi KM. Pan Afr Med J. 2014 Oct 29;19:226. [Open access.] PMID: 25838854. PMCID: PMC4377093.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

The above image demonstrates aplasia cutis congenita in a newborn.

Aplasia Cutis Congenita

Aplasia cutis congenita is characterized by the absence of skin in a localized or widespread area at birth. Most lesions manifest as a solitary defect on the scalp; however, multiple lesions can occur. The lesions are well demarcated, range in size from 0.5-10 cm, and typically involve only the epidermis. Rarely, they can also involve the dermis and subcutaneous tissue and even the skull.[12] Other malformations may be associated with aplasia cutis congenita, including trisomy 13, cleft lip/palate, and defects of the hands and feet.[13]

Typically, small aplasia cutis lesions heal spontaneously. Larger lesions may require surgical intervention and skin grafting.[13,14]

Image courtesy of Medscape | Dr K.E. Greer.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

The above image shows miliaria crystallina in a neonate.

Miliaria

Epidemiology and classification

Miliaria is a common disorder of the eccrine sweat glands that occurs in 1.6-4.5% of newborns.[15,16] Symptoms typically arise in response to heat and humidity, strenuous physical activity, febrile illness, or occlusion of the skin. The symptoms are thought to be secondary to blockage of sweat ducts.

Although miliaria is generally asymptomatic and self-limited, complications include altered heat regulation and secondary infection.

The following three distinct forms have been described[17]:

  • Miliaria crystallina - In which sweat duct obstruction occurs in the stratum corneum
  • Miliaria rubra - In which obstruction occurs deeper within the epidermis and sometimes into the dermis
  • Miliaria profunda - Characterized by obstruction at the dermal-epidermal junction
Image courtesy of Medscape | Dr K.E. Greer.

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Presentation and management

Miliaria crystallina is common in neonates and peaks at around 1 week of age, although the vesicles can appear anywhere within days to weeks of heat exposure, typically arising in crops. Presenting as clear, superficial 1-2 mm vesicles (shown), the lesions may coalesce and will disappear within hours to days with superficial desquamation.[17]

Miliaria rubra is also common in neonates, appearing at 1-3 weeks of age. It is characterized by small uniform, erythematous papules and vesicles. In infants, these lesions appear most commonly in the folds of the neck, axilla, and groin. Unlike miliaria crystallina and miliaria profunda, miliaria rubra is associated with itching and stinging that are exacerbated by sweating.[17]

Miliaria profunda, caused by sweat duct blockage at the dermal-epidermal junction, presents with erythematous or skin-colored, firm papules and usually occurs in adults.

Miliaria is a clinical diagnosis, with confirmatory biopsy needed only in severe or recurrent cases. Treatment typically consists of preventive measures to minimize sweating, and occasionally topical corticosteroids for pruritus and antibiotics for infection.[17]

Image from Wikimedia Commons | Starfoxy~commonswiki. [Creative Commons Attribution-Share Alike 3.0 Unported License.]

6 Common-to-Rare Infant Skin Conditions

Aimee M Barton, MD, FAAP | September 20, 2021 | Contributor Information

Seborrheic Dermatitis

Cradle cap, or seborrheic dermatitis (shown), occurs on the sebum-rich area of the scalp. It commonly appears during the first 3 months of life.[1] Lesions develop as yellowish, patchy, greasy, scaly, and crusty papules and plaques.

Seborrheic dermatitis may be secondary to fungal infection with a Malassezia species, biotin insufficiency, or overactive sebaceous glands. It is occasionally linked to immune disorders. Severe cases are prone to bacterial superinfection.[1]

Treatment typically consists of gentle washing with emollients, followed by the removal of scales with a soft brush or comb. Antifungals or dandruff shampoos may be considered for suspected or confirmed fungal infections. Most cases resolve spontaneously within weeks to months.

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