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Shprintzen syndrome

22q11.2 deletion syndrome (also called DiGeorge syndrome and velocardiofacial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. more...

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The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.


Individuals with a 22q11 deletion have a range of findings, including:

  • Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus)
  • palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals)
  • learning difficulties (70-90%)
  • an immune deficiency regardless of their clinical presentation (77%)
  • hypocalcemia (50%)
  • significant feeding problems (30%)
  • renal anomalies (37%)
  • hearing loss (both conductive and sensorineural)
  • laryngotracheoesophageal anomalies
  • growth hormone deficiency
  • autoimmune disorders
  • seizures (without hypocalcemia)
  • skeletal abnormalities

Thymus, parathyroid glands and heart derive from the same primitive embryonic structure and that is why these three organs are dysfunctioned together in this disease. Affected patients (usually children) are prone to yeast infections.


The disease is related with genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10.


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Acne fulminans in Marfan syndrome
From Journal of Drugs in Dermatology, 7/1/05 by Uwe Wollina


We report on a 12-year-old boy suffering from acne fulminans in combination with Marfan syndrome. The trigger for acne induction seemed to be a testosterone therapy. The particular therapeutic problems in the present case are described. No acne keloids were observed but atrophic scars that may be due to Marfan syndrome.



Acne fulminans is a rare but very severe condition within the spectrum of acne disease. It is characterized by cutaneous and systemic symptoms. The skin involvement usually covers the back, chest, and face with highly inflammatory lesions, nodules, and cysts with secondary ulcerations developing but comedones and non-inflammatory cysts may be completely missing. (1) The patients suffer from polyarthritis and in particular periarthritis which raises differential diagnoses like psoriasis arthritis, SAPHO-syndrome, or chronic recurrent osteomyelitis. (2) Fever is a common symptom reaching up to 40[degrees]C. Leukocytosis, elevation of blood sedimentation rate and C-reactive protein, proteinuria, liver and spleen enlargement and sterile bone lesions also have been observed. (3,4)

Acne fulminans, like any other type of acne, may also be influenced in the clinical presentation and course by coexistent disease. Here, we report a case of Marfan syndrome complicated by relapsing acne fulminans. The association has yet not been described in the available literature.

Case Report

A 12-year-old boy was referred to our department because of extensive suppurative ulcerations and hypergranulations on the chest and back, multiple inflammatory cysts in the aforementioned areas and on the face. In his medical history, a Marfan syndrome was confirmed (Figure 1). His mother also suffered from Marfan syndrome. The boy suffered from severe acne since 2002 after he was treated by his pediatrician with 50 mg testosterone every second week for 6 months because of his constitutional tall stature. He felt severely ill, had a fever of up to 39.5[degrees]C and musculoskeletal pain but no arthritis. The facial skin had multiple highly inflammatory cysts, some with spontaneous secretion. On the chest and more severely on his back we found numerous ulcerated acne lesions with suppuration, fistulation, hypergranulation, and axillary lymph node swelling (Figure 2).

On examination we found a tall boy (188 cm height, 67 kg body weight) with mental retardation. He had muscular hypoplasia and hypotonia, prominent lips, but no hernia. His limbs were disproportionately long. Imaging diagnostics and interdisciplinary clinical rounds gave no evidence of lung cysts or ocular symptoms others than myopia. Echo cardiography gave evidence for cardiovascular abnormalities like dilatation of the left ventricle and marked dilatation of the aorta ascendens.



Marfan syndrome was diagnosed according to De Paepe et al. (5) In addition to the positive family history the patient fulfilled the following clinical major criteria: Walker-Murdoch sign positive, scoliosis, medial rotation of the medial malleolus causing pes planus and dilatation of the ascending aorta with dilatation of the left ventricle. The following minor criteria were also fulfilled: joint hypermobility, pectus excavatum without need of surgery, highly arched palate with crowding of the teeth, dolichocephaly, and retrognathia. Before hospitalization in our department the boy and his mother had been positively investigated elsewhere for mutations of FBN1 gene by sequence analysis (Cytogenetic Laboratory Prager & Junge, Dresden). Both showed a heterozygous nonsense mutation C1771A in exon 13 (Cys546Term).

Laboratory Examinations

Highly increased C-reactive protein of 123 mg/l (normal range: 0-5 mg/l), blood sedimentation rate (51 mm/hour), and leukocytosis (23 gpt/l). There was lymphopenia (8%) and hypochrome microcytic anemia (hemoglobin 6.7 mmol/l; normal range: 8.6-12.1 mmol/), decreased serum iron 4.48 mmol/l (normal range: 14-27 [micro]g/l), decreased total iron binding capacity 43.4 [micro]mol/l (normal range: 50-74 [micro]mol/l), ferritin 265 [micro]g/l (normal range: 30-200 [micro]g/l). Microbial swabs revealed some coagulase-positive staphy-lococci from the neck but most pustules were sterile.

The diagnosis of acne fulminans associated with Marfan syndrome was confirmed.

Treatment and Course

The patient received clindamycin 300 mg p.o. every 8 hours, prednisolone 1 mg/kg body weight p.o., and isotretinoin 0.5 gm/ kg body weight p.o. In addition abscesses were treated surgically, and necrectomy was performed. Topical therapy included with fusidinic acid/betamethasone valerate cream and potassium permanganate baths. Since his mother disagreed to continue corticosteroid therapy, we introduced dapsone 100 mg/d after monitoring the glucose-6-phosphate activity.

The general health status markedly improved within 2 weeks of therapy. The ulcerated lesions healed with hyperpigmentation, some with atrophic scars (Figure 3). The patient could be released from the hospital with minimal residual disease. The mother, however, disagreed to continue the treatment. The boy was admitted again to the hospital in a critical state of acne fulminans and iron deficiency 3 months later. Because of right-sided shoulder pain, we performed sonography and MRI that gave evidence of myositis ossificans without a specific history for trauma. The situation improved with repeated treatment but after hospital release, when the mother again stopped medication for her son, he developed a septicaemiae and had to be admitted in the emergency department of a pediatric clinic.


Marfan syndrome is an aurosomal-dominant connective tissue disorder based on genetic mutations of the fibrillin-1 gene FBN1 on chromosome 15q21.1. Another marfanoid syndrome with fibrillin-1 gene mutations is the Shprintzen-Goldberg syndrome with carniosynostosis resulting in asymmetries, hydrocephalus, maxillary hypoplasia and microgenia, and in most but not all cases severe mental retardation. This could be excluded in the present case based on clinical presentation without cranial asymmetry, maxillary hypoplasia or microgenia. In our case mental retardation was only mild.


In Marfan syndrome more than 200 different mutations have been described. The population prevalence of Marfan syndrome is about 1 in 4000. (5-7) Fibrillin is a major component of microfibrils of the extracellular matrix. These fibrils act as a template for elastic fiber deposition and are components of mature elastic fibers. Their mutation results in severe cardiovascular, skeletal, and ocular defects, (8) are involved in the associated myopathy, (9) and cutaneous symptoms. (10) The trend to excessive height is characteristic. This has prompted the pediatrician to initiate high-dose testosterone therapy.

Androgens are known to be capable inducing severe acne. (11) In the present case high-dose testosterone for hereditary tall stature induced a severe acne fulminans manifestation in a 12-year-old boy with Marfan syndrome. Acne fulminans has been observed in boys after high-dose testosterone therapy of tall stature. (12,13) However, the tendency to widespread ulcerations and hypergranulations of such an extent and severity was remarkable.

There was no report on acne fulminans in Marfan syndrome in the available literature. Cutaneous symptoms usually include skin hyperextensibility, striae distensae, and increased light transmissibility of skin. Some patients develop elastosis perforans serpiginosa. (5,10,14) One case with a pterygium-like nail presentation has been described recently. (15) A boy with Marfan-like phenotype, immunodeficiency, sinobronchiectases, and deep skin ulcers was described in 1996. (16) In this case, a defective expression of the CD1a antigen on Langerhans cells could have contributed to the persistence of deep skin ulcers. In addition, there is evidence of an increased degradation of type I collagen in acne fulminans. (17) In the present case, iron deficiency may have contributed to disturbed wound healing. We had no permission to take a skin biopsy. Therefore, the cause of the remarkable ulceration remains speculative.


First line treatment is the combination of oral isotretinoin and 0.5 to 1.0 mg prednisolone/kg body weight for about 1 month. Dapsone is a treatment of second line decreasing the influx of inflammatory cells in skin lesions. (4,18) With compliance and continuation of retinoid treatment for some months prognosis is good. In other cases like the present one, discontinuation of treatment may even worsen the situation.

We would like to recommend a dermatologic monitoring of patients with Marfan syndrome and androgen treatment in order to evaluate the risk of acne fulminans and to ensure early treatment.

Acknowledgement: We wish to thank Mrs. Ramona Herz for excellent photography.


1. Plewig G, Kligman AM. Acne and Rosacea. 3rd Edition. Berlin, Heidelberg: Springer-Verlag; 2000:342-351.

2. Wollina U, Barta U. Arthritis psoriatica--zum Spektrum von Haut- und Gelenkbefall. Akt Rheumatol. 2000;25:108-112.

3. Karvonen SL. Acne fulminans: report of clinical findings and treatment of twenty-four patients. J Am Acad Dermatol. 1993;28:572-579.

4. Seukeran DC, Cuncliffe WJ. The treatment of acne fulminans: a review of 25 cases. Br J Dermatol. 1999;141:307-309.

5. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.

6. Collod-Beroud G, Boileau C. Marfan syndrome in the third millennium. Eur J Hum Genet. 2002;10:673-681.

7. Pyeritz RE. The Marfan syndrome. Annu Rev Med. 2000;51:481-510.

8. Kielty CM, Wess TJ, Haston L, Ashworth JL, Sherrat MJ, Shuttlew CA. Firbillin-rich microfibrils: elastic biopolymers of the extracelluar matrix. J Muscle Res Cell Motil. 2002;23:581-596.

9. Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003;74:633-638.

10. Abdelmalek NF, Gerber TL, Menter A. Cardiocutaneous syndromes and associations. J Am Acad Dermatol. 2002;46:161-183.

11. Shaw JC, Acne: effect of hormones on pathogenesis and management. Am J Clin Dermatol. 2002;3:571-578.

12. Traupe H, von Muhlendahl KE, Bramswig J, Happle R. Acne of the fulminans type following testosterone therapy in excessively tall boys. Arch Dermatol. 1988;124:414-417.

13. Weimann E, Bohles HJ. Akute Acne fulminans et conglobata nach Beendigung einer Testosteron-Hochdosistherapie bei hereditarem Hochwuchs. Klin Padiatr. 1999;211:410-412.

14. Grahame R, Pyeritz RE. The Marfan syndrome: joint and skin manifestations are prevalent and correlated. Br. J Rheumatol. 1995;34:126-131.

15. Nallegowda M, Yadav SL, Singh U, Sing MK, Tejaswi T. An unusual nail presentation in Marfan's syndrome. J Dermatol. 2002;29:164-167.

16. Plebani A, Monafo V, Cattaneo R, Carella G, Brugnoni D, Facchetti F, Battocchio S, Meini A, Notarangelo LD, Duse M, Ugazio AG. Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers. J Am Acad Dermatol. 1996;35:814-818.

17. Oikarinen A, Autio P, Karvonen SL, Risteli J, Reunala T. Increased degradation of type I collagen in acne fulminans. Acta Derm Venereol. 1996:76:123-125.

18. Allison MA, Dunn CL, Person DA. Acne fulminans treated with isotretinoin and "pulse" corticosteroids. Pediatr Dermatol. 1997;14:39-42.

Uwe Wollina MD, Gesina Hansel Dipl.-Med, Andre Koch MD, Erich Kostler MD

Department of Dermatology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany

Address for Correspondence

Uwe Wollina MD

Department of Dermatology

Hospital Dresden-Friedrichstadt

Academic Teaching Hospital

Friedrichstrasse 41

01067 Dresden, Germany


COPYRIGHT 2005 Journal of Drugs in Dermatology, Inc.
COPYRIGHT 2005 Gale Group

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