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Case Report/Case Series
September 2014

Congenital Volkmann Syndrome and Aplasia Cutis of the ForearmA Challenging Differential Diagnosis

Author Affiliations
  • 1Division of Dermatology, Department of Specialized, Clinical and Experimental Medicine, University of Bologna, Bologna, Italy
  • 2Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
JAMA Dermatol. 2014;150(9):978-980. doi:10.1001/jamadermatol.2014.111
Abstract

Importance  Differential diagnosis between congenital Volkmann ischemic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm presents a clinical challenge. Both diseases share the same clinical presentation characterized by a stellate ulceration over the upper extremities and reported association with neuromuscular defects, but the diagnostic criteria to differentiate these 2 entities remain unclear.

Observations  A newborn girl presented with an ulceration of the left forearm associated with an apparent neurological impairment. On the basis of the suspected neurological involvement, a diagnosis of CVIC was initially considered, but because the neurological evaluation excluded paralysis, our final diagnosis was ACC type VII.

Conclusions and Relevance  In our opinion, CVIC should be considered a particular form of ACC in which an external noxa affects the forearm, increasing the intracompartmental pressure and leading to muscle and nerve ischemia. Therefore, we propose that the definition of Volkmann ischemic contracture should be maintained only for the acquired forms with an evident etiology and that Frieden’s classification scheme for ACC type VII needs to be reformulated.

Differential diagnosis between congenital Volkmann ischemic contracture (CVIC) and unilateral aplasia cutis congenita (ACC) type VII of the forearm represents a clinical challenge. Both diseases share the same clinical presentation characterized by asymmetric, well-demarcated, stellate ulceration over the upper extremities and reported association with neuromuscular defects.1,2 Congenital Volkmann ischemic contracture is a very rare entity of the newborn, and only 15 cases have been reported in the English literature, mainly in plastic and orthopedic surgery journals. Aplasia cutis congenita is a rare condition characterized by a congenital absence of the skin,1 classified into 9 different types by Frieden3 almost 30 years ago. We observed the case of a newborn presenting an ulceration of the left forearm associated with an apparent neurological impairment without skeletal anomalies and would like to propose an update of Frieden’s classification of ACC and the appropriate management of the disease.

Report of a Case

A newborn girl, delivered vaginally at full term without complications, was referred to us for congenital absence of the skin on the left volar forearm with an apparent difficulty in moving the ipsilateral hand. Pregnancy was uncomplicated, and the neonate’s Apgar scores at 1 and 5 minutes after birth were 9. Family history was negative for similar abnormalities or blistering disorders.

On examination, she had a stellate, yellow ulceration approximately 3 cm in diameter with erythematous well-defined margins, localized on the volar side of the left forearm (Figure 1). The left limb appeared hypotrophic, and the ipsilateral wrist presented an obligate palmar flexion. The grasping reflex of the left hand was also weaker than that of the right. However, the neurological examination, performed by a pediatric neurologist, did not reveal either sensor or motor neurological damage. Therefore, additional neurological investigations, such as electromyography, were not performed. A radiograph of the right radius excluded bony abnormalities. Results of full blood tests, including serologic analysis for rubella, cytomegalovirus, and herpes, were normal.

Figure 1.
Aplasia Cutis Type VII of the Forearm
Aplasia Cutis Type VII of the Forearm

Stellate, yellow ulceration with erythematous well-defined margins of the left forearm and palmar flexion of the wrist.

Treatment was surgical and consisted in the debridement of the ulceration followed by receipt of a reconstructive skin graft from the mother. After 6 months of occupational therapy, the left hand and forearm completely recovered their function although a slight hypotrophy of the limb was still present (Figure 2). On the basis of the suspected neurological involvement, the diagnosis of CVIC was initially considered, but after neurological evaluation the final diagnosis was ACC.

Figure 2.
Aplasia Cutis Type VII of the Forearm After Surgical Treatment
Aplasia Cutis Type VII of the Forearm After Surgical Treatment

Scar retraction at 6-month follow-up examination.

Discussion

A review of the literature (eTable in Supplement) evidenced that more accurate definitions of ACC and CVIC are needed because the rarity of these conditions has led to a lack of certain criteria for the differential diagnosis. According to Frieden,3 when ACC involves extremities without associated abnormalities, it should be included in type VII. Although this type of ACC more often shows a symmetrical distribution, in 8 cases it was found to affect only 1 limb.2,4,5 Of these, 2 were associated with skeletal abnormalities at birth and 1 with neurological impairment.2,4 Then, in 2012, the original classification was expanded, introducing 2 subtypes for type VII, in order to include the cases in which the skin defect was associated with the bony abnormalities.2 In such cases, the bone involvement could be related to the damage of perichondrial vessels induced by an external compression and resulting in the necrosis of the perichondrium, as well as the adjacent physeal cells.

The definition of CVIC was introduced for the first time in 1980 by plastic surgeons6 who applied the term to a congenital skin defect of the arm associated with ipsilateral nerve palsy. Since then, an additional 11 cases of CVIC have been reported in orthopedic surgery, plastic surgery, and dermatology journals, but the authors did not clarify how to differentiate CVIC from ACC type VII. Later, in 1998, Léauté-Labrèze et al7 tried to distinguish these 2 entities, stating that CVIC is always associated with muscular and neurological impairment whereas ACC does not present with any associated anomalies. However, when the forearm is affected, both these entities clinically present with a cutaneous defect associated with the flexion of the ipsilateral wrist or, in more severe cases, hand paralysis.2,7 Furthermore, the etiologies of these conditions are still unclear and they may overlap.

Aplasia cutis congenita is thought to be the sequela of mesenchymal bands that surround fetal structures or adhere to fetal skin, resulting in cutaneous lesions or, in more severe cases, in nerve palsy, bony defects, or even amputation. Other causes have included genetic factors, intrauterine trauma, teratogens, fetus papyraceus, or intrauterine infections.2

Congenital Volkmann ischemic contracture, conversely, has been associated with prenatal conditions such as oligohydramnios, polyhydramnios, death of a co-twin, gestational diabetes mellitus, or delivery complications, but, as in ACC, external compression by amniotic bands or the umbilical cord seems to be the most viable hypothesis.6,7

This article is partly focused on semantic issues because dermatology is well known for its “misnomers” and a rational nomenclature is mandatory for our discipline. The description of CVIC was introduced by orthopedists and plastic surgeons, who may not be accustomed to a rare dermatological disease such as ACC. The literature presents cases of ACC with palsy, without palsy, or with dysplasia of the radium, causing diagnostic confusion. Moreover, the pathogenesis of ACC overlaps with that of CVIC (eg, dead twin, amniotic bands).

In our opinion, CVIC should be considered a particular form of ACC in which an external noxa affects the forearm, increasing the intracompartmental pressure and leading to muscle and nerve ischemia. Therefore, we propose that the definition of Volkmann ischemic contracture should be maintained only for the acquired forms with an evident etiology and that the classification scheme of Frieden3 for ACC type VII might be updated as follows (Table):

Table.  
Revised Version of Frieden’s Classification of Aplasia Cutis Congenita (ACC)a
Revised Version of Frieden’s Classification of Aplasia Cutis Congenita (ACC)a

  • Type VIIa. ACC of the extremities without any other abnormality;

  • Type VIIb. ACC of the extremities with bony abnormalities and/or neurological involvement.

Conclusions

In the event of congenital ulceration of the forearm, we suggest performing a complete neurological examination; electromyography, if indicated; and radiography to rule out nerve palsy and/or bony abnormalities to achieve the correct diagnosis.

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Article Information

Accepted for Publication: January 27, 2014.

Corresponding Author: Michela Magnano, MD, Division of Dermatology, Department of Specialized, Clinical and Experimental Medicine, University of Bologna, Via Massarenti 1, 40138 Bologna, Italy (michela.magnano@gmail.com).

Published Online: June 25, 2014. doi:10.1001/jamadermatol.2014.111.

Author Contributions: Drs Neri and Magnano had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Study concept and design: Neri, Magnano, Ricci, Balestri.

Acquisition, analysis, or interpretation of data: Neri, Magnano, Pini, Patrizi, Balestri.

Drafting of the manuscript: Neri, Magnano, Ricci, Balestri.

Critical revision of the manuscript for important intellectual content: Neri, Pini, Patrizi, Balestri.

Study supervision: Neri, Patrizi.

Conflict of Interest Disclosures: None reported.

Correction: This article was corrected on August 6, 2014, to fix an error in the author affiliations.

References
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