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Acquired cephalic cutis laxa

  • Author(s): Jr, Hiram Larangeira de Almeida
  • Rocha, Marcelo Passos da
  • Neugebauer, Samuel
  • Wolter, Manfred
  • Rocha, Nara Moreira
  • et al.
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Acquired cephalic cutis laxa
Hiram Larangeira de Almeida Jr 1,2, Marcelo Passos da Rocha1, Samuel Neugebauer2, Manfred Wolter3, Nara Moreira Rocha4
Dermatology Online Journal 13 (3): 31

1. Catholic University of Pelotas, Brazil2. Federal University of Pelotas, Brazil 3. Laboratory of Dermatopathology, University of Frankfurt, Germany 4. Electron Microscopy Laboratory, EMBRAPA, CPA-CT, Pelotas, Brazil

The extracellular matrix is maintained by the balance between its synthesis and catabolism [1, 2, 3]. Flexibility and extensibility are very important for some tissues such as the skin [2]. The breakdown of this process may cause the development of numerous systemic or cutaneous diseases [4, 5].

Cutis laxa is a rare condition, which can be congenital or acquired, characterized by diminished elastic tissue [6]. Three different hereditary patterns have been described: autosomal dominant, autosomal recessive, and X-linked. Many mutations in genes that codify proteins involved in elastic fiber formation are reported [7, 8, 9, 10, 11, 12]. Cutis laxa is clinically characterized by the presence of hanging inelastic skin; the face has a senile appearance owing to the wrinkled skin [13].

Congenital cutis laxa, has an onset in neonates or in small children. It may have serious systemic involvement that can even result in death during infancy [6]. Many extra-cutaneous manifestations were described, such as aortic ectasia, cardiomegaly, pulmonary emphysema, bronchiectasia, intestinal diverticulae , esophageal dilation, cystocele, uterine prolapse, and rectal prolapse; all of them secondary to elastic tissue dysfunction [11, 14].

Acquired cutis laxa was described after allergic reactions, arthropod stings, drug use (penicillin, isoniazid) and may be associated with diseases such as the following: systemic lupus erythematosus, rheumatoid arthritis, amyloidosis, sarcoidosis, syphilis, alpha-1 antitrypsin deficiency, lymphoma, multiple myeloma, and Borrelia burgdorferi infection. This form has a more benign course affecting mainly young adults, although some cases with systemic involvement were reported [6, 15].

Light and electron microscopy of affected tissue show fragmentation, shortening, and degeneration of the elastic fibers and a decrease in the amount of elastic tissue [16, 17, 18].


Clinical synopsis

A 22 year-old male baker reported that 4 years ago his face began to change, giving him an older appearance. The condition became worse over the last few months and he developed depression because the changes in his face. He had had no previous illnesses, was a non-smoker, and denied alcohol abuse and use of any medication. A seronegative arthralgia in his right ankle was reported.

Skin examination showed that his facial skin was wrinkled with evident nasolabial folds, it is hanging and inelastic, these features are more evident in the submanibular and cervical skin (Fig. 1). Moreover he had enlarged ear lobes (Fig. 2 ) and bilateral blepharochalasis (Fig. 3), numerous open comedones were seen in the cervical region.


Figure 1AFigure 1B
Figures 1A and 1B: Inelastic skin at the submandibular region (A), result after the face lift (B).

Figure 2AFigure 2B
Figures 2A and 2B. Enlarged ear lobe (A) and results after surgical treatment (B)

Figure 3AFigure 3B
Figures 3A and 3B: Blepharalochalasis (A) and result after surgical treatment (B)

Figure 4aFigure 4b
Figures 4. Light microscopy of the palpebral skin showing reduction of elastic tissue (A) (Weigert Staining 100x), detail of dermo-epidermal junction with an irregular contour and reduced oxytalanic fibers (B) (Weigert Staining 400x).

Figure 5
Figure 5. Transmission electron microscopy with granular degeneration of elastic fiber (EF) and normal collagen (C) (50.000x).

With the clinical diagnosis of acquired cephalic cutis Laxa, the patient was sent to a plastic surgeon, to undergo a lifting, blepharoplasty and reduction of the ear lobes, which lead to very good results (Figures 1b,2b and 3b) .

The preauricular, submandibular, and palpebral skin were histologically examined. Conventional light microscopy with hematoxylin-eosin staining, showed perivascular lymphocytic infiltrates and crossed-over collagen fibers. With elastic fibers staining (Weigert), decreased elastic fibers with fragmentation and shortening could be seen (Fig. 4A). Examining the dermo-epidermal junction the oxytalanic fibers in the papillary dermis were also affected, ranging from reduction to absence (Fig. 4B) giving an irregular contour the basal membrane. These findings were more intense in the palpebral skin.

Similarly to light microscopy, transmission electronic microscopy (TEM) showed reduction of the elastic fibers with degeneration of the elastic tissue, collagen fibers were normal (Fig. 5).


Discussion

Cutis laxa is a rare skin disease with characteristic loose, inelastic and redundant skin, giving the patient the appearance of premature senility.

Localized forms of cutis laxa have been described [19, 20, 21]; few cases have been reported that involve only the face [22, 23, 24]. This acquired cephalic form presents characteristic aspects: blepharochalasis, evident nasolabial folds, and enlargement of the ear lobes. Moreover, in our patient comedones were seen in the cervical region, the dilatation of these hair follicles is likely to be a consequence of the lost of elastic tissue.

Light microscopy showed crossed-over collagen fibers, this disarrangement may also may be secondary to the lost of elastic fibers. Specific staining and TEM showed irregular, fragmented elastic fibers that were reduced in number. Oxytalanic fibers at the dermo-epidermal junction were also affected.

The surgical plastic procedure of the redundant facial skin gave good results, in accordance to previous reports of surgical treatment with facelift and blepharoplasty of cephalic cutis laxa [23,25].

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