|Year : 2022 | Volume
| Issue : 3 | Page : 220-224
Dermatopathia pigmentosa reticularis: a rare case
Nidhin Varghese1, J. P Prathibha2
1 Senior Resident; Department of Dermatology, St John’s Medical College Hospital, Bangalore, Karnataka, India
2 Assistant Professor; Department of Dermatology, St John’s Medical College Hospital, Bangalore, Karnataka, India
|Date of Submission||26-Feb-2021|
|Date of Decision||03-Sep-2021|
|Date of Acceptance||11-Sep-2021|
|Date of Web Publication||30-Nov-2022|
Dr. J. P Prathibha
Assistant Professor, Department of Dermatology, St John’s Medical College, Bangalore 560034, Karnataka
Source of Support: None, Conflict of Interest: None
Dermatopathia pigmentosa reticularis (DPR) is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21-year-old man who had generalized reticulate pigmentation, diffuse noncicatricial alopecia, and onychodystrophy of finger and toe nails. Along with this triad, he also had mild atrophy of skin over hands and feet, palms and soles, and loss of dermatoglyphics. There was no evidence of involvement of other organs with ectodermal origin.
Keywords: Dermatopathia pigmentosa reticularis (DPR), ectodermal dysplasia, noncicatricial alopecia, onychodystrophy, reticulate pigmentation
|How to cite this article:|
Varghese N, Prathibha JP. Dermatopathia pigmentosa reticularis: a rare case. Pigment Int 2022;9:220-4
| Introduction|| |
Dermatopathia pigmentosa reticularis (DPR) is a very rare ectodermal dysplasia characterized by the triad of generalized reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. It is an autosomal dominant disorder with mutations in the KRT14 gene. It was first described by Hauss and Oberste-Lehn in 1958. In the literature, only a few cases of DPR have been reported.
| Case Report|| |
A 21-year-old boy, born out of second degree consanguineous marriage, presented to the out-patient department with complaints of hyperpigmentation over the body for 12 years. The pigmentation started in early childhood on tongue, slowly the pigmentation was noticed on the lower limbs, and then progressed to the entire body, while nail deformity and reduced hair growth was also observed. There was no similar complaints in the family members.
On examination, he had reticulate hyperpigmentation over the whole body. Pigmentation was especially dense over neck, upper trunk, abdomen, proximal extremities, axilla, groin, periorbital, and tongue and base of uvula [Figure 1]a–c. The hairs on the scalp were short, with decrease in density [Figure 2], although he had androgenetic alopecia. The skin on the palms and soles was glossy with absent dermatoglyphics [Figure 3]. Nails were thin, short, and dystrophic, and few of the toes had anonychia [Figure 4]. Dental, ocular, auditory examination, and sweating were normal. Differential diagnoses considered were lichen planus pigmentosus, Naegeli–Franceschetti–Jadassohn syndrome (NFJS), and dyschromatosis symmetrica hereditaria. Systemic examination and blood workup were within normal limits.
|Figure 1 (a) Reticulate pigmentation on the back. (b) Reticulate pigmentation on the neck. (c) Reticulate pigmentation on the forearm.|
Click here to view
Dermoscopy [Dermatoscope (DL3) SKU: DE-L- DL3] [Dermalite 3 with 10× magnification with polarization and was attached to OnePlus 6 (A6000, camera 16+20 MP Dual Camera, Optic AMOLED 6.28″ Display) mobile phone with 1.5× magnification] of skin showed prominent reticular pigment network with increased black, brown, gray, and bluish-black dots. A few whitish brown, gray, bluish gray, and white globules are also noted. Whitish-brown globular structures are arranged in cobblestone pattern; each globule separated by brown to black dots in granular fashion [Figure 5]. Similarly, white scales in few areas were noted arranged in linear pattern separated by dots [Figure 6]. Linear and branching in-focus and out of focus blood vessels are observed in few areas. Purplish hue is appreciated in few areas. Digits showed loss of dermatoglyphics. Palms showed prominent pigment network with numerous brown and comparatively lesser black dot. Brown and few black globules are also reported. Brownish globules consist of stellate-shaped white structures in the center [Figure 7]. Globules are arranged in linear fashion.
|Figure 5 Dermoscopy of trunk/limbs − white brown globular structures are arranged in cobblestone pattern, each globule is separated by brown to black dots in granular fashion. White globular structures are in a cobblestone pattern separated by brown dots.|
Click here to view
|Figure 6 White scales in a linear pattern: green – arrow white areas, blue arrow – blackish pigment globules, red area – eccrine openings, the orange arrow indicates an eccrine gland opening.|
Click here to view
|Figure 7 Acral skin: black arrows − eccrine opening, brownish globules consist of stellate-shaped white structures in center, arranged in linear fashion. Blue arrow − dull white area (keratin), linear and branching vessels observed at few places, purplish hue is appreciated (inflammation and pigmentation).|
Click here to view
Hematoxylin and eosin staining of a skin biopsy with scanner view and 100× magnification demonstrated epidermis with occasional necrotic keratinocytes along the basal layer, as well as interface dermatitis. In the superficial dermis, numerous melanophage clusters were identified. Eccrine glands and pilosebaceous units were found to be normal [Figure 8]a, b.
|Figure 8 (a) Occasional necrotic keratinocytes along the basal layer. Interface dermatitis is observed. (b) The superficial dermis showed several clusters of melanophages (Hematoxylin and eosin).|
Click here to view
| Discussion|| |
DPR is a rare ectodermal disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Other dermatologic findings include absent or decreased dermatoglyphics, hypohidrosis or hyperhidrosis, palmoplantar hyperkeratosis, acral nonscarring blisters, diffuse or punctate palmoplantar hyperkeratosis, darkly pigmented nipples, mucosal pigmentation, digital fibromatosis, neurofibromas, and wiry scalp hair.
The reticular pigmentation in DPR begins from infancy or early childhood and continues throughout life. Abnormalities of dermatoglyphics are divided into four main categories: ridge aplasia, ridge hypoplasia, ridge dissociation, and ridge off the end.,
Few extracutaneous manifestations reported include fine punctate superficial spots in the cornea, Salzmann nodular degeneration of the cornea, and early onset gastric carcinoma.,
The DPR is allelic to NFJS due to dominant mutations in the nonhelical E1/V1 domains of keratin 14. DPR and NFJS were originally described as separate conditions; however, because of very few differences in the clinical presentation and being caused by mutations in the same gene, they are now often considered different forms of the same disorder. Both manifest with poorly developed dermatoglyphics, reticulate hyperpigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in NFJS, whereas diffuse alopecia is only observed in DPR. Teeth are always severely affected, leading to early total loss in NFJS. In some NFJS pedigrees, the reticulate pigmentation fades after puberty and may disappear completely in old age. In DPR, the hyperpigmentation persists throughout life, showing no tendency of spontaneous fading.
Diagnosis of DPR was considered in our case due to presence of normal teeth, progressive pigmentation and diffuse alopecia.
DPR is not associated with any specific laboratory changes. The typical histopathological findings in DPR are epidermal hyperpigmentation, liquefaction degeneration of the basal layer and dermal pigmentary incontinence. Other reported histopathologic features include mild orthokeratosis, papillomatosis, melanophages, interface dermatitis, and sparse, superficial, perivascular inflammation.
Dermoscopy of the skin revealed a significant reticular pigment network with enhanced black, brown, gray, and bluish-black dots. There are also a few whitish brown, gray, bluish-gray, and white globules. Whitish-brown globular structures are arranged in cobblestone pattern; each globule separated by brown to black dots in granular fashion. Digits showed loss of dermatoglyphics. Palms showed prominent pigment network with numerous brown and comparatively lesser black dots. Dermoscopic features in DPR have not been described till date.
No specific treatment exists for DPR, except for symptomatic management of associated conditions.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
Acknowledgement to Dr Balachandra Ankad.
| References|| |
Shanker V, Gupta M. Dermatopathia pigmentosa reticularis: a rare reticulate pigmentary disorder. Indian Dermatol Online J 2013;4:40-2.
] [Full text]
Al Saif F. Dermatopathia pigmentosa reticularis: report of a new cases and literature review. Indian J Dermatol 2016;61:468.
] [Full text]
Shah BJ, Jagati AK, Gupta NP, Dhamale SS. Naegeli-Franceschetti-Jadassohn syndrome: a rare case. Indian Dermatol Online J 2015;66:403-6.
Jha B, Rai T, Singh N, Singnarpi SR. A case of dermatopathia pigmentosa reticularis. JDA Indian J Clin Dermatol 2019;2:22-3.
Hulmani M, Sanodia G, Kumar VJ. Naegeli-Franceschetti-Jadassohn syndrome: a rare reticulate pigmentary disorder. Indian J Dermatol 2019;64:235-8.
] [Full text]
Vats G, Kataria R, Sonare D, Jain V. Dermatopathia pigmentosa reticularis. Indian J Paediatr Dermatol 2018;19:77-9. [Full text]
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]