Scholarly article on topic 'A case report of juvenile hyaline fibromatosis'

A case report of juvenile hyaline fibromatosis Academic research paper on "Clinical medicine"

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Abstract of research paper on Clinical medicine, author of scientific article — Mohammed H. Abduljabbar

Abstract Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive disease characterized by early onset papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy, stunted growth and osteolytic bone lesions. Histopathological examination of the cutaneous lesions is unique and characterized by an accumulation of an amorphous, hyaline material in the dermis with increased number of fibroblasts. Herein, we report an 11year-old girl who presented with papulonodular lesions on the scalp, chin, ears, elbows, knees, back and perianal skin. She had gingival hypertrophy and contractures of the elbows, hips, knees and ankles.

Academic research paper on topic "A case report of juvenile hyaline fibromatosis"

Journal of Dermatology & Dermatologic Surgery (2014) xxx, xxx-xxx

King Saud University Journal of Dermatology & Dermatologic Surgery

www.ksu.edu.sa www.jdds.org www.sciencedirect.com

Mohammed H. Abduljabbar

Department of Dermatology, King Abdulaziz University Hospital, Jeddah, Saudi Arabia Received 14 April 2014; revised 6 May 2014; accepted 12 June 2014

CASE REPORT

A case report of juvenile hyaline fibromatosis

KEYWORDS

Juvenile;

Hyaline;

Fibromatosis;

Autosomal;

Recessive

Abstract Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive disease characterized by early onset papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy, stunted growth and osteolytic bone lesions. Histopathological examination of the cutaneous lesions is unique and characterized by an accumulation of an amorphous, hyaline material in the dermis with increased number of fibroblasts. Herein, we report an 11 year-old girl who presented with papulonodular lesions on the scalp, chin, ears, elbows, knees, back and perianal skin. She had gingival hypertrophy and contractures of the elbows, hips, knees and ankles.

© 2014 Production and hosting by Elsevier B.V. on behalf of King Saud University.

1. Introduction

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with an onset in infancy or early childhood (Yayli et al., 2006). Less than 70 cases have been reported worldwide (Park et al., 2010; Uslu et al., 2007). It is characterized by pap-ulonodular skin lesions, gingival hyperplasia, joint contractures and bone lesions (Ribeiro et al., 2009). The histological findings of cutaneous lesions in JHF are characterized by the varying degrees of fibroblasts and amorphous hyaline ground substance in the extracellular spaces of the dermis and soft tissues (Tehranchinia and Rahimi, 2010). The etiology of JHF is still unknown but capillary morphogenesis protein 2 and mutation in a gene on chromosome 4q21 are considered to be caus-

* Address: Department of Dermatology, King Abdulaziz University Hospital P.O. Box 80215, Jeddah 21589, Saudi Arabia. Mobile: +966 543009900.

E-mail address: modaj@windowslive.com. Peer review under responsibility of King Saud University.

ative factors (Altug et al., 2009; Karacal et al., 2005; Thomas et al., 2004).

2. Case report

An 11-year-old girl presented with multiple asymptomatic skin lesions at different body sites. She was a product of a full term normal pregnancy for a third-degree consanguineous parents. Other family members (parents, one brother and three sisters) are healthy except for her older brother who is affected by the same disease. She was well till the second month of age when her mother started to notice difficulties in moving her limbs with progressive painless contractures. At the age of two, the first skin lesion appeared in the perianal area which was complicated by painful defecation. At the age of three, difficulty in feeding developed as a result of progressive swelling of the gums that almost covered her teeth. Multiple skin lesions appeared on the face and digits along with swellings on the scalp, back, elbows and knees at the age of 6 and increased gradually in number and size. Apart from skin lesions, joint contractures and her failure to thrive, there were no systemic symptoms and the patient was otherwise healthy with normal mental function. They sought medical advice many times but accurate diagnosis has not been made.

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Figure 1 Pearly papules over the chin.

Skin examination showed whitish-pinkish papules and nodules on the chin, ears, digits (Figs. 1-3), and perianal region and multiple skin colored tumors on the scalp, back, elbows and knees, largest measuring 10 x 4 cm (Figs. 4-7). Oral examination revealed extensive gingival hyperplasia (Fig. 8). Joint contractures were evident in the wrists, hips, knees and ankles (Fig. 9).

Skeletal radiographs showed joint contractures and osteolytic bone lesions (Fig. 10). Routine laboratory tests showed normal results except for iron deficiency anemia. Histopathol-ogical examination with hematoxylin-eosin stain showed dermal deposits of eosinophilic hyaline material with increased fibroblasts (Figs. 11 and 12). Based on the characteristic clinical and histopathological findings, a diagnosis of JHF was made.

3. Discussion

Juvenile hyaline fibromatosis (JHF) was originally described by Murray in 1873 under the name "molluscum fibrosum'' (Denadai et al., 2012). At that time, it was considered a variant of neurofibromatosis. Whitfield and Robinson later reported two more cases in 1903 and suggested the disease be recatego-rized as multiple fibromata, but it was not until 1972 when this condition was given the current name of juvenile hyaline fibro-matosis by Kitano et al. Thomas et al. (2004), Lim et al. (2005), Slimani et al. (2011). An autosomally recessive mode of inheritance is accepted, but sporadic cases can occur

M.H. Abduljabbar

Figure 3 Right hand showing multiple pinkish nodules.

Figure 4 Large subcutaneous tumor over the scalp.

Figure 5 Large subcutaneous tumor over the right elbow.

Figure 6 Large subcutaneous tumors over the back.

A case report of juvenile hyaline fibromatosis

Figure 7 Large subcutaneous tumor over the right knee.

Figure 8 Severe gingival hyperplasia.

Figure 11 Low power histopathological image shows dermal deposits of eosinophilic hyaline material (Hematoxylin-eosin stain).

Figure 12 High power histopathological image shows numerous fibroblasts embedded in homogenous hyaline material (Hematoxylin-eosin stain).

Figure 10 Right distal eccentric radial metaphyseal lytic lesion.

(Yayli et al., 2006). The gene that causes JHF has been mapped to 4q21 and mutations in the capillary morphogenesis (factor -2 gene) have also been described (Altug et al., 2009; Karacal et al., 2005; Thomas et al., 2004). The exact pathogenesis is unknown but several theories have been proposed, most attributing JHF lesions either to aberrant synthesis of glycosamino-glycans by fibroblasts or to disordered collagen metabolism (Lim et al., 2005; Tzellos et al., 2009) (see Table 1).

The disease is defined clinically by a constellation of findings including pearly skin papules or subcutaneous firm nodules, joint contractures, acralosteolytic lesions, gingival hypertrophy and normal intelligence (Yayli et al., 2006). Skin lesions can be polymorphous papules, small, rosy, clustered and located in the face and neck, particularly around the nostrils, ears, paranasal folds and the chin along with nodular lesions or plaques on the scalp, limbs and perianal regions (Ribeiro et al., 2009). They are slow growing and painless and have a tendency to recur following excision (Krishnamurthy and Dalal, 2011). Gingival hyperplasia is a common finding that may be severe enough to interfere with feeding, and may result in poor oral hygiene, infection and dental caries (Nofal et al., 2009).

Musculoskeletal involvement in JHF is frequent, and flexion contracture of large joints is the most debilitating problem; most adolescents and adults become bedridden and die of infection (Slimani et al., 2011). It has been hypothesized that contractures result from infiltration of the capsules of the joints (S, 1992). Osteolytic bone lesions are commonly observed in the distal phalanges, skull, and long bones and

4 M.H. Abduljabbar

Table 1 Clinical features of JHF versus ISH Rapini (2007).

Clinical features of juvenile hyaline fibromatosis versus infantile systemic hyalinosis

Juvenile Infantile

hyaline systemic

fibromatosis hyalinosis

Age of onset Childhood Infancy

(<5 years old)

Cutaneous findings:

Firm, pearly papules (favoring the perinasal area and ears) + +

Verrucous perianal nodules + +

Firm nodules/tumors (favoring the scalp, neck, hands and trunk) + -

Reddish-blue to brown plaques overlying extensor surfaces of joints - +

Diffusely thickened skin - +

Gingival hypertrophy + +

Joint contractures + +

Osteopenia + +

Persistent diarrhea - +

Recurrent infections - +

Visceral involvement - +

Normal mental development + +

Survival into adulthood + -

they have the same histological features as the skin lesions (Yayli et al., 2006). The skin and soft tissue lesions are often the first signs of presentation; however, in other patients, joint manifestations may be primary (Karacal et al., 2005).

A similar condition, infantile systemic hyalinosis (ISH), is characterized by the above findings, with further involvement of the viscera (gastrointestinal, cardiac, hepatic, splenic and thyroid) and an inevitably fatal outcome. Many postulate that JHF and ISH are the same condition with differing penetrance and phenotypic expression (Thomas et al., 2004). Hyaline fibromatosis syndrome (HFS) is a recently introduced term to include both disorders. This term was introduced because of the many similarities between JHF and ISH, including clinical features, histopathological patterns, and the same gene mutation (Raak SM, 2013).

The diagnosis of JHF can be confirmed by histology. The tumors are poorly circumscribed and consist of cords of spindle-shaped cells embedded in a homogeneous eosinophilic matrix. They are often found in the dermis, subcutis and gingiva, although the bone and joints may also be involved (Krishnamurthy and Dalal, 2011).

No specific treatment is available for JHF (Bharambe, 2012). The treatment is only esthetic and its aim is to limit orthopedic disability (Krishnamurthy and Dalal, 2011). Early surgical removal of skin lesions may help, but recurrences are common (Tehranchinia and Rahimi, 2010; Quintal and Jackson, 1985). Joint contractures may respond to intralesion-al systemic steroid physiotherapy, capsulotomy and oral D-penicillamine (Denadai et al., 2012; Krishnamurthy and Dalal, 2011; El-Maaytah et al., 2010). Gingivectomy can improve the amount of oral intake, but when it is not enough to recover patient's nutritional deficiency, parenteral feeding such as tube feeding, gastrostomy and placing a central line should be considered (Park et al., 2010). Frequent visits for periodontal treatment and maintenance of good oral hygiene are important factors in decreasing the growth rate of the gin-givae in patients with JHF (El-Maaytah et al., 2010). Genetic

counseling is of great importance as the recurrence risk is 25% in any future pregnancy.

4. Conclusion

JHF is a rare hereditary disease with progressive course that should be highly suspected in a patient with early onset papu-lonodules, joint contractures and gingival hypertrophy. Early diagnosis and proper multidisciplinary management are crucial in an attempt to slow the progression of this rare disabling disease.

Funding

The author did not receive financial support for this case report.

Conflict of interest

We have no conflict of interest to declare. References

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