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Year : 2020  |  Volume : 21  |  Issue : 3  |  Page : 200-202

Recurrent urinary retention: An unusual presentation of laryngo-onycho-cutaneous syndrome

1 Department of Dermatology, Base Hospital, Lucknow, Uttar Pradesh, India
2 Consultant Dermatologist, Military Hospital, Dehradun, Uttarakhand, India
3 Department of Urology, Armed Forces Medical College, Pune, Maharashtra, India
4 Consultant Dermatologist, Base Hospital, Delhi Cantt, New Delhi, India

Date of Submission08-Feb-2019
Date of Decision08-Feb-2019
Date of Acceptance17-Apr-2020
Date of Web Publication30-Jun-2020

Correspondence Address:
Dr. Aradhana Sood
Department of Dermatology, Base Hospital, Lucknow - 226 002, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_15_19

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Laryngo-onycho-cutaneous (LOC) first described by Shabbir in 1986 in Muslim families from Punjab is a rare autosomal recessive disorder characterized by increased skin and mucous membrane fragility associated with exuberant granulation. The 4th International Consensus Meeting on “Diagnosis and Classification of Epidermolysis Bullosa” classifies it as a localized form of Junctional Epidermolysis Bullosa (JEB-LOC Syndrome) with mutations in α3 chain of Laminin 332. While laryngeal, ocular, and cutaneous involvement in these cases has been widely reported, urinary tract involvement is relatively rare. We report a case of JEB-LOC syndrome in a child from South India with extensive urethral involvement.

Keywords: Junctional epidermolysis bullosa, Laminin 332, laryngo-onycho-cutaneous syndrome

How to cite this article:
Sood A, Bhatnagar A, Aggarwal A, Saraswat N. Recurrent urinary retention: An unusual presentation of laryngo-onycho-cutaneous syndrome. Indian J Paediatr Dermatol 2020;21:200-2

How to cite this URL:
Sood A, Bhatnagar A, Aggarwal A, Saraswat N. Recurrent urinary retention: An unusual presentation of laryngo-onycho-cutaneous syndrome. Indian J Paediatr Dermatol [serial online] 2020 [cited 2021 Jun 23];21:200-2. Available from: https://www.ijpd.in/text.asp?2020/21/3/200/288491

  Introduction Top

Junctional Epidermolysis Bullosa - Laryngo-Onycho-Cutaneous (JEB-LOC) syndrome is a rare recessively inherited form of JEB first reported by Shabbir in 1986, and later described by Ainsworth et al., as laryngeal and ocular granulation in children syndrome. These children present in infancy with hoarseness of voice or stridor, nail involvement, skin and mucous membrane fragility with excessive granulation tissue formation. Although laryngeal and ocular mucosal involvement is common, genitourinary involvement in localized JEB is rare.

  Case Report Top

An 8-year-old male child, first born of a third-degree consanguineous marriage in a Hindu family from South India, presented to the surgical outpatient department with recurrent dysuria and difficulty in passing urine of 1 year duration. A dermatology consultation was sought for his nail involvement suspecting onychomycosis. A detailed history revealed that the child was symptomatic since birth with a hoarse cry and recurrent skin erosions, especially over the areas of friction that healed slowly with prominent scars. Since 5 months of age, the parents noticed painful fleshy swellings in the finger and toenails of the child, which resulted in deformed nails. At 1 year of age, he developed difficulty in breathing that progressed to stridor. He was managed as a case of laryngeal webs with tracheostomy, intermittent laser fulguration, and mitomycin at various centers over the next 3 years. While there was relief in respiratory symptoms, the cutaneous lesions, nail involvement and hoarseness remained unchanged. At 6 years of age, he developed a fleshy swelling in the right eye, which was slowly progressive. Subsequently, the child developed recurrent episodes of urinary retention, which were managed with antibiotics and intermittent catheterization. A dermatology consult was sought only when the patient reported to our urology center.

The child was a full term by cesarean delivery (for oligohydramnios) with low birth weight (1.9 kg) and historically his developmental milestones were within normal limits. There was no history of similar symptoms in his younger female sibling or any other family members.

On examination, the anthropometry, motor, and mental milestones were normal. Dermatological examination revealed dystrophy and onycholysis with exuberant nail bed granulation involving both finger and toe nails [Figure 1]. Healing erosions with excessive granulation tissue and hypertrophic scars were seen on the elbows and knees. There were multiple atrophic scars in the perioral area with irregular dentition and hypoplastic enamel [Figure 2]. A fleshy growth adherent to the palpabral conjunctiva, was seen on the temporal cornea of the right eye [Figure 3].
Figure 1: Exuberant nail bed granulation with dystrophy

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Figure 2: Atrophic perioral scars with hypoplastic dental enamel

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Figure 3: Conjunctival granulation tissue

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Skin biopsy from the erosions and nail bed biopsy revealed nonspecific granulation tissue with a negative DIF for IgM, IgG, IgA, and C3. Immunofluorescence antigen mapping with Laminin 332 and genetic studies could not be done due to nonavailability in our center.

Micro-laryngo-bronchoscopy revealed granulation tissue inferior to the vocal cords with anterior synechiae of the cords. The external urethral meatus was inflamed, and micturating cystourethrogram revealed an irregular narrow anterior urethra and dilated posterior urethra [Figure 4]. A fleshy mass arising from the posterior urethra extending to the bladder neck was seen on cystoscopy. Based on the autosomal recessive pattern of inheritance, with the characteristic clinical presentation of extensive laryngeal mucosal involvement along with characteristic ocular, nail changes, and a histopathological finding of extensive granulation with negative DIF, a diagnosis of JEB-LOC syndrome was made.
Figure 4: Micturating cystourethrogram showing narrowing of anterior urethra and dilatation of posterior urethra

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A laser fulguration of the urethral mass was done which alleviated the urinary symptoms. The patient was started on oral thalidomide 50 mg twice daily. There was significant decrease in the cutaneous and mucosal granulation tissue after 2 months of therapy. No further intervention was required for laryngeal and urethral involvement after initiation of thalidomide. The patient continues to be symptom free on low-dose thalidomide.

  Discussion Top

LOC syndrome is a rare inherited mechanobullous disorder with few cases having been described in the literature. It is an autosomal recessive subtype of localized JEB-LOC syndrome[1] with the gene locus at chromosome 18q11.20.[2] There is a frame shift mutation specific to Laminin α3a, a protein preferentially secreted by basal cells of the stratified epithelia of the skin, respiratory tract, and eye.[3] The ocular changes have been attributed to missense mutations in tumor suppressor gene encoding for p63.[4]

An ethnic preponderance is noted as most reported cases in the literature belong to Punjabi Muslim lineage of the Indian subcontinent; however, occasional cases from other ethnicities have been reported. Exuberant granulation tissue formation with minimal blistering in the susceptible epithelia is the hallmark of the disease. Ultrastructurally, the level of cleavage is in the lamina lucida. The extent of organ involvement varies, with most patients manifesting either at birth or in early infancy with stridor or hoarseness, dystrophic nails, and slow-healing cutaneous erosions with extensive granulation. Ocular involvement usually begins from the temporal conjunctiva progressing to extensive pannus formation.[5] Dental abnormalities include hypoplastic dental enamel, caries, and amelogenesis imperfecta.[6] The only reported urinary tract involvement in the literature has been meatal stenosis. The clinical diagnosis of JEB-LOC syndrome can be confirmed using histopathology and immunofluorescence antigen mapping, which may show absent, or reduced staining Laminin 332. Mutational analysis aids in the final subclassification of the disease and genetic counseling.[7] Transmission electron microscopy is reserved for inconclusive cases. The mainstay of management is symptomatic relief of the organ manifestations due to excessive granulation tissue formation with laser ablation, amnion grafting, and nonspecific therapies such as immunomodulators, thalidomide, and biologics.[8] Targeted therapeutic approaches such as transplantation of genetically modified stem cells and revertant mosaicism are in the nascent stage.[9] The prognosis is poor with most cases succumbing to respiratory complications, though spontaneous remission has been described in those patients who survive the second decade.[10] Though cutaneous ocular and nail involvement have been well described in JEB-LOC, the extensive urinary tract involvement seen in our case has not been described previously in the literature. Our patient showed good clinical response with thalidomide and has not required any surgical intervention after initiation of therapy.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for the patient's images and other clinical information to be reported in the journal. The patient's parents understand that name and initials of the patient will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Authors certify that they have obtained all appropriate patient consent forms. In the form the parents have given their images and other clinical informations to be reported in the journal. The parents understand that their child's name and initial will not be published and due efforts will be made to conceal his identity.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014;70:1103-26.  Back to cited text no. 1
McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder Laryngo-Onycho-Cutaneous syndrome. Hum Mol Genet 2003;12:2395-409.  Back to cited text no. 2
Shaheen JA, Mohammad K. Shabbir's syndrome: The nosological status elucidated. J Pak Assoc Dermatol 2010;20:125-27.  Back to cited text no. 3
Atkinson SD, Moore JE, Shah S, Sharma A, Best RM, Leccisotti A, et al. P63 expression in conjunctival proliferative diseases: Pterygium and Laryngo-Onycho-Cutaneous (LOC) syndrome. Curr Eye Res 2008;33:551-8.  Back to cited text no. 4
Gomaa A, Liu C. Visual rehabilitation in Laryngo-Onycho- Cutaneous (LOC) Syndrome. Adv Ophthalmol Vis Syst 2014;1:18.  Back to cited text no. 5
Philips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD. Laryngo-Onycho-Cutaneous syndrome- An inherited epithelial 33 defect. Arch Dis Child 1994;70:319-26.  Back to cited text no. 6
Hiremagalore R, Kubba A, Bansel S, Jerajani H. Immunofluorescence mapping in inherited epidermolysis bullosa: A study of 86 cases from India. Br J Dermatol 2015;172:384-91.  Back to cited text no. 7
Strauss RM, Bäte J, Nischal KK, Clayton T, Gooi J, Darling JC, et al. A child with Laryngo-Onycho-Cutaneous syndrome partially responsive to treatment with thalidomide. Br J Dermatol 2006;155:1283-6.  Back to cited text no. 8
Kiritsi D, Has C, Bruckner-Tuderman L. Laminin 332 in junctional epidermolysis bullosa. Cell Adh Migr 2013;7:135-41.  Back to cited text no. 9
Cohn HI, Murrell DF. Laryngo-Onycho-Cutaneous syndrome. Dermatol Clin 2010;28:89-92.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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