Indian Journal of Dermatology
CORRESPONDENCE
Year
: 2021  |  Volume : 66  |  Issue : 3  |  Page : 330-

Multiple scalp tumors in juvenile hyaline fibromatosis with antxr-2 mutation in a family


Vibhu Mendiratta1, Anuja Yadav1, Jyoti Yadav1, Smita Singh2, Neha Suman2,  
1 From the Departments of Dermatology and STD, Lady Hardinge Medical College and Associated Hospital, New Delhi, India
2 Pathology, Lady Hardinge Medical College and Associated Hospital, New Delhi, India

Correspondence Address:
Anuja Yadav
From the Departments of Dermatology and STD, Lady Hardinge Medical College and Associated Hospital, New Delhi
India




How to cite this article:
Mendiratta V, Yadav A, Yadav J, Singh S, Suman N. Multiple scalp tumors in juvenile hyaline fibromatosis with antxr-2 mutation in a family.Indian J Dermatol 2021;66:330-330


How to cite this URL:
Mendiratta V, Yadav A, Yadav J, Singh S, Suman N. Multiple scalp tumors in juvenile hyaline fibromatosis with antxr-2 mutation in a family. Indian J Dermatol [serial online] 2021 [cited 2021 Sep 19 ];66:330-330
Available from: https://www.e-ijd.org/text.asp?2021/66/3/330/321342


Full Text



Sir,

Hyaline fibromatosis syndrome is a rare autosomal recessive disorder associated with deposition of amorphous, hyaline material in skin, and visceral organs.[1] Dermatological opinion was sought for a 4-year-old female, born of consanguineous marriage delivered as normal, vaginal delivery. Her mother noticed multiple boggy, progressively increasing swellings over scalp, retroauricular, and perianal region, since 2 years of age and reddish swellings over tips of some toes and middle fingers, upper and lower gingival mucosa, and multiple skin colored raised lesions in nasolabial fold since six months. The 2-year-old female sibling had similar multiple boggy swellings over scalp, upper and lower gingival mucosae, and skin colored lesions were noted over retroauricular area and the nasolabial fold. There was no history of diarrhea, recurrent infections, joint contracture, or seizure in either of siblings. Antenatal and postnatal periods were uneventful. General physical examination was normal in both the siblings. Cutaneous findings of elder sibling comprised of multiple subcutaneous, soft to firm, noncompressible, nontender nodules over scalp, and behind both ears [Figure 1]a. Multiple skin colored papules were seen on nasolabial fold [Figure 1]b. A fleshy, skin colored plaque was present in the perianal region [Figure 1]c. Nails showed multiple skin colored papules over nail folds. Multiple erythematous swellings and whitish crusting were noted on tips of fingers. Oral mucosa showed upper and lower gingival redness and hypertrophy in both siblings [Figure 1]b and [Figure 2]b. Multiple subcutaneous, soft to firm, noncompressible, and nontender nodules were present over scalp [Figure 2]a. Multiple skin colored papules were present over nasolabial folds.{Figure 1}{Figure 2}

Both the siblings had anemia (hemoglobin – 9 g/dL). Skeletal survey in both the patients showed osteolytic lesions in bilateral medial aspect of proximal tibial metaphyses, medial, and humeral shaft. Dental and ophthalmological evaluations were normal. Gingival biopsy and biopsy of the retroauricular nodule showed unencapsulated ill-circumscribed lesion in the dermis composed of spindle shaped cells in a homogenous eosinophilic matrix in both the siblings [Figure 3]a and [Figure 3]b. Alcian blue stain was positive [Figure 3]c. USG abdomen was normal except mild hepatomegaly in younger sibling. Genetic analysis of older sibling was found to have Antxr-2 on exon 14 variant C.1156 G>T (homozygous) mutation, which was pathogenic in nature. We could not do genetic analysis of the other patient and parents because of financial constraints. Final diagnosis of juvenile hyaline fibromatosis was made on the basis of cutaneous findings, histopathology, and genetic mutation. Parents were counseled about the disease and prognosis was explained. Perianal swelling and scalp tumors were excised in pediatric surgery department under general anesthesia.{Figure 3}

In 1873, juvenile hyaline fibromatosis (JHF) was first reported by Murray as molluscum fibrosum; however, the term was given by Kitano in 1976.[2] JHF is common in consanguineous marriage as autosomal recessive mode of inheritance is the most common mode of inheritance (affecting siblings); however, sporadic cases are known to occur. Exact prevalence of juvenile hyaline fibromatosis is not known, approximately 70 cases have been reported worldwide and only few case reports are from India.[1] Mutation in CMG2/ANTXR2 gene has been described in ISH and JHF. JHF is believed to be a milder phenotype of ISH. Clinical manifestations begin in the first few months of the life.[3] The main manifestations of ISH and JHF are papular and nodular skin lesions around the nostrils and ears, and large subcutaneous nodules, mostly on the scalp, gingival hyperplasia, joint contracture, and various degrees of bone involvement. Osteolytic bone lesions are commonly observed in the distal phalanges, skull, and long bones. However, ISH is distinguished from JHF by the presence of visceral (intestinal, cardiac, hepatic, splenic, thyroid) involvement and a rapid fatal outcome.[3],[4],[5] The characteristic histological features of JHF include the presence of increased number of fibroblasts embedded in a hyalinized connective tissue stroma. The hyaline material is positive with special stains such as alcian blue.[1] Treatment is unsatisfactory. Therapeutic trials have been attempted with dimethylsulphoxide, and ketotifen for JHF without much improvement. Surgical excision of swellings remains the only treatment available in juvenile hyaline fibromatosis although recurrences are common.

Determination of the specific underlying mutation by genetics studies (CMG2/ANTXR2 in majority of cases) is important for family planning and counseling.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

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2Murray J. On three peculiar cases of molluscum fibrosum in children which one or more of the following conditions were observed: Hypertrophy of the gums, enlargement of the ends of the fingers and toes, numerous connecive-tissue tumours on the scalp, & c. Med Chir Trans 1873;38:235-54.
3Mancini GMS, Stojanov L, Willemsen R, Kleijer WJ, Huijmans JG, van Diggelen OP, et al. Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients. Dermatology 1999;198:18-25.
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