|
 |
| CASE REPORT |
|
| Year : 2017 | Volume
: 9
| Issue : 1 | Page : 33-34 |
|
|
A case of membranous aplasia cutis congenita and dermoscopic features
Belén Lozano-Masdemont
Department of Dermatology, Hospital General de Ciudad Real, Obispo Rafael Torija, 13005, Ciudad Real, Spain
| Date of Web Publication | 3-Jul-2017 |
Correspondence Address:
Belén Lozano-Masdemont
Department of Dermatology, Hospital General de Ciudad Real, Obispo Rafael Torija, 13005 Ciudad Real
Spain
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijt.ijt_91_16
 Abstract | | |
Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. On dermoscopy, they showed a reddish background, thin, lineal vessels and, remarkably few hair bulbs could be seen because of the translucency of the lesion. No skull bone and brain defects were found. The diagnosis of membranous aplasia cutis congenita was established. Histologically, it is characterized by an atrophic epidermis with loose fibrovascular stroma and edematous dermal stroma. Dermoscopy may help to rule out other entities (herpes simplex, epidermolysis bullosa, trauma…) since the atrophic epidermis and fibrovascular stroma is evidenced by the hair bulbs and its characteristic translucency (“translucency's sign”). Keywords: Aplasia cutis, child, dermoscopy, membranous
How to cite this article:
Lozano-Masdemont B. A case of membranous aplasia cutis congenita and dermoscopic features. Int J Trichol 2017;9:33-4 |
| Introduction | |  |
Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis. Trichoscopy may help in the diagnosis.
| Case Report | | |
A Caucasian male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs [Figure 1]. He was otherwise healthy and was born after an unassisted vaginal delivery and an uncomplicated term pregnancy. At the age of 2 months, physical examination revealed two translucent alopecic gray to white, rounded papules, 4–6 mm [Figure 1]. On dermoscopy (polarized light), the largest showed a reddish background, thin, lineal vessels and, remarkably few hair bulbs could be seen because of the translucency of the lesion [Figure 2]. The other lesion showed a whitish background and, again, a hair bulb was perfectly observed. No skull bone or brain defects were found. His mother had no history of drug ingestion during pregnancy. The diagnosis of membranous aplasia cutis congenita was established. | Figure 1: At the age of 2 months, physical examination revealed two translucent alopecic gray to white, rounded papules, 4–6 mm in size, close to the hair whorl, surrounded by a rim of terminal hairs
Click here to view |
 | Figure 2: Dermoscopy of aplasia cutis: reddish background, thin, lineal vessels, and few hair bulbs seen by the translucency of the lesion
Click here to view |
| Discussion | | |
Aplasia cutis congenita is a congenital defect of the skin characterized by localized absence of the epidermis, dermis and, at times, underlying structures such as bone or dura.[1] It generally occurs on the scalp. Most cases appear to be sporadic although some potential associations have been proposed: drugs, underline embryologic malformations, infarction caused by rapid growth, between others.[2] The clinical picture varies from fissure-like ulcers with a granulating base, erosions, atrophic macules, or scars. Among them, a cystic variant covered with a membranous or glistening surface is called membranous aplasia cutis congenita (MACC).[3]
In a recent review, all the cases were located on the skull, most of them on the vertex or parietal scalp, ranging from 1 to 7 lesions, and frequently associated with bone defects (6/17).[4] Associated findings were hair collar sign, hydrocephaly, spasticity, epilepsy, cleft palate, primary optic nerve atrophy, meningeal arteriovenous fistula, corneal lipodermoid changes, cornea scleralization, nevus flammeus stain, and infantile hemangioma. Fujita et al.[5] reported two cases more, surrounded by a rim of hairs, without bony or neural defects: one case associated with dense dermal melanocytosis and the other with nevus flammeus.
Drolet et al.[3] have proposed that MACC is an abortive form of a neural tube defect. The hair collar sign, regarded as a relatively specific marker for cranial neural tube closure defects, is frequently seen. Histologically, the thin epithelial covering observed resembles that of encephaloceles and meningoceles.[4]
The diagnosis is clinical and a biopsy is not needed. When performed, it shows an atrophic epidermis with loose fibrovascular stroma, edematous dermal stroma, or both.[4] A sonography of the lesion and a transfontanelar sonography should be done to rule out skull defects or cerebral abnormalities.[6] MACC can be visualized on prenatal sonography as a smooth cystic lesion without flow.[7] Conservative therapy is the option of choice.[2]
Dermoscopy may help to rule out other entities (herpes simplex, epidermolysis bullosa, trauma…) since the atrophic epidermis and fibrovascular stroma is evidenced by the hair bulbs and its characteristic translucency (“translucency's sign”).
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Frieden IJ. Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.  [ PUBMED] |
| 2. | Paller AS, Mancini AJ. Cutaneous disorders of the newborn. In: Paller AS, Mancini AJ, editors. Hurwitz Clinical Pediatric Dermatology. 4 th ed. Philadelphia: Elsevier Saunders; 2011. p. 10-36. |
| 3. | 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;131:1427-31. [ PUBMED] |
| 4. | Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eichenfield LF. Bullous aplasia cutis congenita. J Am Acad Dermatol 2003;48 5 Suppl: S95-8. |
| 5. | Fujita Y, Yokota K, Akiyama M, Machino S, Inokuma D, Arita K, et al. Two cases of atypical membranous aplasia cutis with hair collar sign: One with dermal melanocytosis, and the other with naevus flammeus. Clin Exp Dermatol 2005;30:497-9. |
| 6. | Browning JC. Aplasia cutis congenita: Approach to evaluation and management. Dermatol Ther 2013;26:439-44. |
| 7. | Jelin AC, Glenn OA, Strachowski L, Vargas JE. Membranous aplasia cutis congenita: A recognizable lesion on prenatal sonography. J Ultrasound Med 2009;28:1393-6. |
[Figure 1], [Figure 2]
| This article has been cited by | | 1 |
Dermoscopic characteristics of membranous aplasia cutis congenita: Report of 56 cases |
|
| Li Zhang, Zhao Zhang, Hong-Jing Jiang, Yun-Jing Pu, Hong Shu, Ya-Dong Li | | Skin Research and Technology. 2022; | | [Pubmed] | [DOI] | | | 2 |
Hallazgos dermatoscópicos en la aplasia cutis membranosa. Diagnóstico diferencial con otras formas de alopecia focal en lactantes |
|
| D. Morgado-Carrasco, X. Fustà-Novell | | Actas Dermo-Sifiliográficas. 2021; 112(3): 275 | | [Pubmed] | [DOI] | | | 3 |
Dermoscopic Findings in Membranous Aplasia Cutis: Differential Diagnosis to Exclude Other Forms of Focal Alopecia in Infants |
|
| D. Morgado-Carrasco, X. Fustà-Novell | | Actas Dermo-Sifiliográficas (English Edition). 2021; 112(3): 275 | | [Pubmed] | [DOI] | | | 4 |
Evolving eponymous signs in diagnostic dermoscopy |
|
| Shashank Bhargava, Atul Bothra, Seujee Das, Anshu Maheswari, Mehak Singh | | IP Indian Journal of Clinical and Experimental Dermatology. 2021; 7(2): 98 | | [Pubmed] | [DOI] | | | 5 |
Membranous aplasia cutis congenita in trisomy 18 |
|
| Francisco Cammarata-Scalisi, Andrea Diociaiuti, Blanca de Guerrero, Colin Eric Willoughby, Michele Callea | | Italian Journal of Pediatrics. 2020; 46(1) | | [Pubmed] | [DOI] | | | 6 |
The Trichoscopic “Golf Club Set” Sign for Bullous Aplasia Cutis Congenita |
|
| Mario Cutrone, Ramon Grimalt | | Skin Appendage Disorders. 2018; 4(4): 320 | | [Pubmed] | [DOI] | |
|
 |
|
|
|
