Aplasia congenital skin

What is it aplasia skin congenital?

Aplasia cutis congenita describes the congenital absence of skin The most common form appears as a defect of the scalp at birth. Aplasia cutis is also a component of a series of genetic syndromes

How is aplasia cutis contracted and who is at risk?

Factors that contribute to aplasia cutis include:

• Genetics: Aplasia cutis can be seen in association with other congenital skin defects, such as organoids or epidermal naevi. Family cases are reported with autosomal dominant and autosomal recessive heritage.
• Nonsyndromic congenital aplasia cutis has been associated with a heterozygous mutation at BMS1 gene (611448) in chromosome 10q11.
• Placental infection during pregnancy, such as chickenpox (chicken pox) or herpes simplex
• Teratogens (drugs or chemicals that cause birth defects, such as methimazole, carbimazole, misoprostol, cocaine, marijuana, and valproic acid)
• Skin development defect in the embryo / fetus.
• Amniotic bands due to early rupture of amniotic membranes
• The death of a twin fetus (papyrus fetus).

Aplasia cutis is rare and does not have a particular race or sex you are at higher risk.

What are the clinical characteristics of aplasia cutis?

In 70 to 80% of cases, aplasia cutis affects the scalp side to the middle lineBut injuries can also occur on the face, trunk, or extremities, sometimes symmetrically.

• Areas of skin loss or ulceration they vary in size from 0.5 cm to 10 cm.
• The flaws are notinflammatory And they are fine demarcated.
• A plume of hair Aplasia surrounding skin may denote underlying malformation with defecT neural tube.
• Superficial cutaneous aplasia involves only the epidermis (upper layers of the skin). Superficial defects generally heal before the child is born, leaving a scar.
• Deeper defects can extend through the dermis, subcutaneous tissue, and rarely periosteum, skull, or dura.
• Aplasia cutis may partially heal before delivery and appear hairless, atrophic, membranous, parchment or fibrotic scar.
• Aplasia membranous cutis is a flat, white membrane that covers a defect in the skull. Distorted hair growth, known as a hair collar sign, is a marker of an underlying cranial defect, such as encephalocele, meningocele, and brain tissue outside the skull.
• A rare bullous A variant of congenital aplasia cutis has been reported.
• Some people with aplasia cutis also have congenital malformations of the heart, gastrointestinal, genitourinary (such as gastroschisis or umbilical hernia)and central nervous system (how meningomyelocele or spinal dysraphism).

Classification of Aplasia Cutis

The Frieden classification system for aplasia cutis has 9 groups depending on the number and location of injuries and associated malformations.

Group 1

Aplasia cutis of the congenital scalp without other abnormalities.

Group 2

Aplasia cutis of the congenital scalp with abnormalities in the extremities: includes Adams-Oliver syndrome

Group 3

Aplasia cutis of the congenital scalp with solitary epidermal or sebaceous (organoid) nevus or an epidermal nevus syndrome

Group 4

Aplasia congenital skin that covers deep embryological malformations

Team 5

Aplasia congenital stellate cutis of the trunk or limb associated with the papiraceous fetus or placental infarction

Group 6

Epidermolysis bullosa with congenital absence of skin (congenital aplasia cutis of the lower limb associated with epidermolysis bullosa (Bart syndrome)

Group 7

Aplasia congenital cutis de limb without epidermolysis bullosa

Group 8

Aplasia cutis congenita due to teratogens such as intrauterine herpes simplex or chickenpox infection or medicines like methimazole or carbimazole

Group 9

Aplasia cutis congenita associated with malformation syndromes, including trisomy 13 with large membranous defect (Patau syndrome), Wolf-Hirschhorn syndrome (deletion of the short arm of chromosome 4) with defects of the scalp in the midline, Setleis syndrome with aplasia bitemporal congenital skin and abnormal eyelashes; Johanson-Blizzard syndrome with stellate scalp defects; focal dermal hypoplasia (Goltz syndrome); and others.

What are the complications of aplasia cutis?

Complications of aplasia cutis rarely occur, but may include:

• Arterial bleeding
• Secondary wound infection
• Sagittal breast thrombosis.
• Brain infection that leads to death.

What treatments are available for Aplasia Cutis?

Small areas of aplasia cutis generally heal spontaneously over time, forming a hairless scar. To avoid infection, mild cleanses and mild ointments can be used. If an infection occurs, antibiotics can be used.

Larger injuries or multiple defects of the scalp may require surgical repair; sometimes a skin or bone graft may be necessary. Tissue expanders can be used.