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CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 87-89

Aplasia cutis congenita: Involvement of lower limbs and the feet: A rare presentation


Department of Paediatrics and Neonatology, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India

Date of Web Publication9-Apr-2015

Correspondence Address:
Pradeep Kumar
Dr. Ram Manohar Lohia Hospital, Room No. 303, Doctor's Hostel, New Delhi 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.152130

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  Abstract 

Aplasia cutis congenita is a rare heterogeneous group of congenital developmental disorder of the skin. ACC usually involves scalp. We report an interesting presentation of ACC in a neonate with extensive lesions over bilateral thighs as well as feet. Such symmetrical distributions being rarely reported.

Keywords: Aplasia cutis congenita, foot involvement, symmetrical skin lesions


How to cite this article:
Kumar P, Gorakh R. Aplasia cutis congenita: Involvement of lower limbs and the feet: A rare presentation. Indian J Paediatr Dermatol 2015;16:87-9

How to cite this URL:
Kumar P, Gorakh R. Aplasia cutis congenita: Involvement of lower limbs and the feet: A rare presentation. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Jan 29];16:87-9. Available from: http://www.ijpd.in/text.asp?2015/16/2/87/152130


  Introducion Top


Aplasia cutis congenita (ACC) is a heterogeneous group of congenital disorder characterized by a localized absence of skin, dermal appendages and subcutaneous tissues since birth of the child. It is a rare condition with no sexual and racial predilection. It was first described by Cordon in 1767. [1],[2] ACC was reported to affect 1 in every 10,000 live births. [3] Another review in 2006 reported an incidence of 2.8 cases per 10,000 newborns. [4] This apparent differences in the incidence may be the result of the significant underreporting.

ACC may occur anywhere in the body; however, in 84% of cases, the defect is found in the scalp. [5] Nonscalp lesions may involve the trunk, extremities or both and are usually bilaterally symmetric. [6] Still, asymmetric distribution has been also reported. [7] Diagnosis is based on the clinical findings mainly while the histopathology is not reported in majority in cases. [1] Histological Feature vary depending on the depth and duration of aplasia, the total absence of epidermal appendages is specific characteristic features but reported in few cases only. [8]

Neither the pathogenesis nor the etiology has been clarified yet, due to multiple etiological factors involved in the diseases process, as like Genetic factors, intrauterine trauma, infection, compromised vasculature to the skin, medications and teratogens (methimazole, carbimazole, misoprostol, valproic acid, diclofenac (nonsteroidal anti-inflammatory drugs). [3],[8],[9] Most published cases of ACC are sporadic; with a few reports describing a familial occurrence in the form of autosomal dominant, [10] as well as autosomal recessive pattern of inheritance. [11] Prognosis of the disorder depends on the others organ involvement and their size. [2] The main complications of larger defects include infection, bleeding and thrombosis that may be fatal. Therefore, prompt diagnosis and appropriate treatment are instituted earlier include conservative and surgical management. Larger skin defects reconstruct with local skin flaps and allogeneic dermal graft or cultured epitheloid autografts. We describe a case of ACC with symmetrical lower limbs involvement in a neonate.


  Case report Top


A 5-day-old male baby was referred by an obstetrician for extensive areas of denuded skin in both lower limbs. The full term neonate with appropriate growth for gestation age (birth weight 2688 gm, length 48 cm and head circumstances 34 cm), born by normal delivery, had bilaterally symmetrical distributed aplasia cutis involving the antero-medial aspects of both lower limbs. No family history of similar condition and no history of medications or disease during pregnancy could be elicited. On physical examination, the child showed no signs of acute distress or neurological impairment. The uppermost part in the left thigh had already healed and is presented as a congenital scar, and the lower area was covered by the thin translucent membrane [Figure 1] and [Figure 2]. There were no other organ abnormalities on clinical examination. Ultrasonography of the abdomen and central nervous system imaging revealed no abnormalities. Routine investigations were within normal limits. Child managed conservatively with cotton padding and topical antibiotics.
Figure 1: Aplasia cutis involving the antero-medial aspects of both lower limbs

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Figure 2: Congenital scar and the lower area was covered by the thin translucent membrane

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  Discussion Top


Aplasia cutis congenita is one of the uncommon disorders of skin embrional development presented at birth characterized by a localized absence of skin, dermal appendages, and subcutaneous tissues. Most published cases of ACC is typically sporadic; however, autosomal dominant and less commonly autosomal recessive, cases have also been reported. [12] Mutations in ribosomal GTPase BMS1 have been identified as a potential cause of autosomal dominant ACC.

At birth, ulcerated lesions may show a complete absence of skin. After healing, the epidermis may appear flattened with a proliferation of fibroblasts within the connective-tissue stroma and an absence of adnexal structures. Histologic evaluation of such lesions reveals a distinct pattern containing fibrovascular stromas, edematous stroma, or both, but the total absence of epidermal appendages is specific characteristic features. [8]

Although ACC usually benign, they can be associated by a lot of physical anomalies syndromes and chromosomal disorders. Hence, Frieden [3],[4] created a classification system for ACC consisting of nine groups based on the number and location of the lesions and the presence or absence of associated malformations [2]

The decision to use medical, surgical, or both forms of therapy in ACC depends primarily on the size, depth, and location of the cutaneous defect and therapy of associated defects as indicated. Recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Larger skin defects reconstruct with local skin flaps and allogeneic dermal graft or cultured epitheloid autografts. [6] but Underlying or associated defects may also significantly affect mortality and morbidity. Full-thickness defects of the scalp, skull, and dura are associated with a mortality rate of greater than 50%.

Local therapy includes gentle cleansing and the application of the bland ointment or topical antibiotic ointment to prevent desiccation of the defect. Antibiotics are only indicated if overt signs of infection are noted. Our patient is an example of ACC with involvement of bilaterally symmetrical distributed aplasia cutis involving the antero-medial aspects of both lower limbs with involvement of the dorsum of feet and medial third of the right sole. Our child did not show any others organ abnormalities and had no obvious neurological deficit. The clinical description of our patient points towards the type 7 of Friedan classification. But the disorder occurs sporadically with no family history. Our patient managed conservatively lesions covered with bulky cotton padding over joints along-with application of topical antibiotics for several weeks. However, unfortunately child developed sepsis and expired.

 
  References Top

1.
Braun Falco O, Plewig G, Wolf HH, Burgdorf WHC. Dermatology. 2 nd ed. Berlin: Springer; 2000.  Back to cited text no. 1
    
2.
Moros Peña M, Labay Matías M, Valle Sánchez F, Valero Adán T, Martín-Calama Valero J, Muñoz Albillos M. Aplasia cutis congenita in a newborn: Etiopathogenic review and diagnostic approach. An Esp Pediatr 2000;52:453-6.  Back to cited text no. 2
    
3.
Frieden IJ. Aplasia cutis congenital; a clinical review and proposal for classification cited in Rook/Ebling/Wilkinson. Textbook of Dermatology. 6 th ed. London: Blackwell Science Limited; 1998.  Back to cited text no. 3
    
4.
Frieden IJ. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.  Back to cited text no. 4
[PUBMED]    
5.
Ahcan U, Janezic T. Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg 2002;55:530-2.  Back to cited text no. 5
    
6.
Demmel U. Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. Eur J Pediatr 1975;121:21-50.  Back to cited text no. 6
    
7.
Mannino FL, Jones KL, Benirschke K. Congenital skin defects and fetus papyraceus. J Pediatr 1977;91:559-64.  Back to cited text no. 7
[PUBMED]    
8.
Valdez RM, Barbero PM, Liascovich RC, De Rosa LF, Aguirre MA, Alba LG. Methimazole embryopathy: A contribution to defining the phenotype. Reprod Toxicol 2007;23:253-5.  Back to cited text no. 8
    
9.
Crowe MA. Aplasia cutis congenita, Medscape. Available from: http://emedicine.medscape.com/article/1110134-overview [Last accessed on 2015 Jan 12].  Back to cited text no. 9
    
10.
Kruk-Jeromin J, Janik J, Rykala J. Aplasia cutis congenita of the scalp. Report of 16 cases. Dermatol Surg 1998;24:549-53.  Back to cited text no. 10
    
11.
Taifour Suliman M, Quazi A. Aplasia cutis congenita of the trunk in a Saudi newborn. Br J Plast Surg 2004;57:582-4.  Back to cited text no. 11
    
12.
Fimiani M, Seri M, Rubegni P, Cusano R, De Aloe G, Forabosco P, et al. Autosomal dominant aplasia cutis congenita: Report of a large Italian family and no hint for candidate chromosomal regions. Arch Dermatol Res 1999;291:637-42.  Back to cited text no. 12
    


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