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Aplasia
cutis congenita
Aplasia cutis congenita is a developmental inherited defect and
may occur at any time from the embryonic stage to very early childhood.
It is a total absence of the skin epidermis in small patches. This
may occur anywhere on the body but often it is recognized on the
scalp and particularly on the vertex at the center point of the
hair growth whorl (scalp hair grows in a whorl pattern if you look
closely at the back of the head).
In aplasia cutis congenita hair follicles are absent from the affected
region, although with time some sparse hair may grow. In newborns
the affected area is clearly visible as an ulcer or scar tissue.
Its occurrence in newborns is a significant event that needs immediate
attention as it is potentially life threatening. The affected area
is susceptible to infection especially meningitis and it is also
a likely area for hemorrhage. When the affected area is large the
newborn may undergo immediate surgery to close the wound. Smaller
affected areas may be left to heal.
Aplasia cutis congenita is an embryonic developmental defect and
as such it can be found in association with many other mental and
physical defects as well as being present in isolation from other
conditions. Aplasia cutis congenita has been observed in association
with defects such as limb abnormalities, cleft lip and palate, double
uterus, and mental retardation along with diseases such as epidermolysis
bullosa, Grave's disease and polycystic kidneys.
The condition occurs simply because the skin does not grow in the
affected area during embryonic development. Some dermatologists
believe that when the defect occurs at the center of the scalp hair
whorl pattern, it is the result of that area of the skin being stretched
as the brain and skull expand underneath. The stretching squeezes
blood vessels inside the skin and limits nutrient supply which may
limit cell growth or the skin may stretch so much that it ruptures.
This is just a belief and there is no actual evidence to support
the claim. Others believe that aplasia cutis congenita is simply
a failure of the neural tube to grow properly during embryonic development.
The drug "Methimazole" has been implicated in the development
of this condition when given to women during pregnancy (Vogt 1995,
Mandel 1994).
There is no known treatment other than to transplant normal skin
and hair follicles to the affected area or the affected area may
be cut out.
Aplasia
cutis congenita references
- Drolet
B, Prendiville J, Golden J, Enjolras O, Esterly NB. 'Membranous
aplasia cutis' with hair collars. Congenital absence of skin
or neuroectodermal defect? Arch Dermatol. 1995 Dec;131(12):1427-31.
- Drolet
BA, Clowry L Jr, McTigue MK, Esterly NB. The hair collar sign:
marker for cranial dysraphism. Pediatrics. 1995 Aug;96(2 Pt
1):309-13.
- Mandel
SJ, Brent GA, Larsen PR. Review of antithyroid drug use during
pregnancy and report of a case of aplasia cutis. Thyroid. 1994
Spring;4(1):129-33.
- Frieden
IJ. Aplasia cutis congenita: a clinical review and proposal
for classification. J Am Acad Dermatol. 1986 Apr;14(4):646-60.
- Hogler W, Sidoroff A, Weber F, Baldissera
I, Heinz-Erian P. Aplasia cutis congenita, uvula bifida and
bilateral retinal dystrophy in a girl with Naevus sebaceous
syndrome. Br J Dermatol. 1999 Mar;140(3):542-3.
- Kenner JR, Sperling LC. Pathological
case of the month. Temporal triangular alopecia and aplasia
cutis congenita. Arch Pediatr Adolesc Med. 1998 Dec;152(12):1241-2.
- Tan HH, Tay YK. Familial aplasia cutis
congenita of the scalp: a case report and review. Ann Acad Med
Singapore. 1997 Jul;26(4):500-2.
- Gershoni-Baruch R, Leibo R. Aplasia cutis
congenita, high myopia, and cone-rod dysfunction in two sibs:
a new autosomal recessive disorder. Am J Med Genet. 1996 Jan
2;61(1):42-4.
- Fullana F, Gonzalez M, No M, Huc O, Gonzalez-Mestre
V. Aplasia cutis congenita of the scalp in five successive generations
of one family. Plast Reconstr Surg. 1995 Jan;95(1):214-5.
- Vogt T, Stolz W, Landthaler M. Aplasia
cutis congenita after exposure to methimazole: a causal relationship?
Br J Dermatol. 1995 Dec;133(6):994-6.
- Hubert A, Bonneau D, Couet D, Berthier
M, Oriot D, Larregue M. Aplasia cutis congenita of the scalp
in an infant exposed to valproic acid in utero. Acta Paediatr.
1994 Jul;83(7):789-90.
- Sargent LA. Aplasia cutis congenita of
the scalp. J Pediatr Surg. 1990 Dec;25(12):1211-3.
- Leung RS, Beer WE, Mehta HK. Aplasia
cutis congenita presenting as a familial triad of atrophic alopecia,
ocular defects and a peculiar scarring tendency of the skin.
Br J Dermatol. 1988 May;118(5):715-20.
- Itin P, Pletscher M. Familial aplasia
cutis congenita of the scalp without other defects in 6 members
of three successive generations. Dermatologica. 1988;177(2):123-5.
- Prendiville JS, Esterly NB. Halo scalp
ring: a cause of scarring alopecia. Arch Dermatol. 1987 Aug;123(8):992-3.
- Paltzik RL, Aiello AM. Aplasia cutis
congenita associated with valvular heart disease. Cutis. 1985
Jul;36(1):57-8.
- Neal PR, Merk PF, Norins AL. Halo scalp
ring: a form of localized scalp injury associated with caput
succedaneum. Pediatr Dermatol. 1984 Jul;2(1):52-4.
- Stephan MJ, Smith DW, Ponzi JW, Alden
ER. Origin of scalp vertex aplasia cutis. J Pediatr. 1982 Nov;101(5):850-3.
- Munkvad JM, Nielsen AO, Asmussen T. Aplasia
cutis congenita. A follow-up evaluation after 25 years. Arch
Dermatol. 1981 Apr;117(4):232-3.
- Schneider BM, Berg RA, Kaplan AM. Aplasia
cutis congenita complicated by sagittal sinus hemorrhage. Pediatrics.
1980 Dec;66(6):948-50.
- Kosnik EJ, Sayers MP. Congenital scalp
defects: aplasia cutis congenita. J Neurosurg. 1975 Jan;42(1):32-6.
- Lassman LP, Sims DG. Congenital midline
scalp and skull defect. Arch Dis Child. 1975 Dec;50(12):958-60.
- Demmel U. Clinical aspects of congenital
skin defects. I. Congenital skin defects on the head of the
newborn. Eur J Pediatr. 1975 Dec 9;121(1):21-50.
- Rudolph RI, Schwartz W, Leyden JJ. Bitemporal
aplasia cutis congenita. Occurrence with other cutaneous abnormalities.
Arch Dermatol. 1974 Oct;110(4):615-8.
- Deeken JH, Caplan RM. Aplasia cutis congenita.
Arch Dermatol. 1970 Oct;102(4):386-9.
- Cutlip BD Jr, Cryan DM, Vineyard WR.
Congenital scalp defects in mother and child. Am J Dis Child.
1967 May;113(5):597-9.
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