![]() |
Dermatopathia pigmentosa reticularis: A rare case with adermatoglyphia
Sheenu Goyal, Sumir Kumar, Sameer Hundal, Arnav Mehta
Department of Dermatology, Venerology, Leprology, Guru Gobind Singh Medical College and Hospital, Faridkot, India
Citation tools:
Copyright information
© Our Dermatology Online 2025. No commercial re-use. See rights and permissions. Published by Our Dermatology Online.
ABSTRACT
Dermatopathia pigmentosa reticularis (DPR) is an exceptionally rare autosomal dominant ectodermal dysplasia resulting from mutations in the KRT14 gene. Herein, we present the case of a seventeen-year-old female patient with reticulate hyperpigmentation, non-scarring alopecia, onychodystrophy, and adermatoglyphia. Dermoscopy of the scalp showed decreased hair follicle density and dermoscopy of the neck showed brownish dots and globules in a reticular pattern. Histopathology of the palm revealed a sparse superficial perivascular infiltrate, mainly consisting of melanophages, along with some lymphocytes. This case underscores the importance of recognizing the characteristic clinical features of DPR, supported by dermoscopic and histopathological findings, to differentiate it from other reticulate pigmentary disorders.
Key words: Dermatopathia, Adermatoglyphia, Alopecia, Reticular Pigmentation
INTRODUCTION
Dermatopathia pigmentosa reticularis (DPR) is an exceptionally rare autosomal dominant ectodermal dysplasia resulting from mutations in the KRT14 gene. DPR manifests with a distinctive diagnostic triad comprising generalized reticulate hyperpigmentation, onychodystrophy, and non-scarring alopecia [1]. Additional features may include adermatoglyphia, palmoplantar hyperkeratosis, and abnormal sweating patterns. Not more than thirty cases have been reported in the English literature (Google Scholar search) to date. Through this case, we aim to contribute to the understanding of this rare condition and emphasize the importance of accurate diagnosis for appropriate management.
CASE REPORT
A seventeen-year-old female patient presented to the outpatient clinic reporting difficulty in registering her fingerprints for the issuance of ID proof. Additionally, she expressed concerns about pigmentation on her face, hands, feet, chest, and neck, which began around the age of 3–4 years and progressively worsened. She also experienced diffuse hair loss beginning at the same time. There was no reported history of hyperhidrosis, heat intolerance, or photophobia, and no family members had similar complaints. Mentally, she appeared normal with a standard IQ. The rest of the general physical examination revealed no abnormalities.
Cutaneous examination revealed reticular pigmentation on the neck, V area of the chest, and upper back (Figs. 1a and 1b). The palms and soles exhibited diffuse pigmentation along with mottled hypopigmented and hyperpigmented spots (Figs. 1c and 1d). There were multiple freckles on the face along with diffuse pigmentation. In the oral cavity, there was noticeable brown pigmentation on both the tongue and the hard palate. The dentition was normal. Dystrophy of the toe and finger nails was also present (Fig. 1e). On the scalp, there was a decrease in hair density along with reticular pigmentation (Fig. 1f). Adermatoglyphia was seen on the palms and soles (Figs. 2a and 2b). Dermoscopy of the distal phalanx showed a loss of the ridge pattern (Fig. 3a). Dermoscopy of the scalp showed decreased hair follicle density and brownish dots and globules in a reticular pattern, and dermoscopy of the neck showed brownish dots and globules in a reticular pattern (Fig. 3b). On the palms, irregularly arranged hypopigmented and hyperpigmented macules were present (Fig. 3c). Histopathology of the palm revealed a sparse superficial perivascular infiltrate, mainly consisting of melanophages, along with some lymphocytes. There was a slight flattening of the rete ridges, and the papillary dermis displayed mild fibroplasia (Fig. 3d).
On basis of all the above, a differential diagnosis of dermatopathia pigmentosa reticularis and Naegeli–Franceschetti–Jadassohn (NFJ) syndrome was established, yet NFJ was excluded as there was no dental anomaly.
On further investigations, Hb was 11.4 mg/dL with a normocytic normochromic blood picture. Additional tests, including liver and kidney function assessments, thyroid profile, and serum B12 and folate levels, were all within normal limits. Treatment included the topical application of glycolic acid to the hands and feet, along with the nightly application of 5% minoxidil to the scalp. The patient underwent regular follow-up, and after 4.5 months of treatment, there was a slight improvement of the pigmentation on the hands and feet, along with a significant improvement in hair density on the scalp (Figs. 4a and 4b).
DISCUSSION
Dermatopathia pigmentosa reticularis (DPR) is a rare pigmentary skin condition characterized by three primary features: widespread reticulate hyperpigmentation, non-scarring alopecia, and nail alterations. Initially documented by Hauss and Oberste-Lehn in 1958, the pigmentation typically emerges either at birth or during infancy and remains present throughout an individual’s lifetime [2]. Table 1 shows an approach to reticular pigmentation with the onset in infancy and early childhood.
NFJS and DPR are both rare ectodermal dysplasias inherited in an autosomal dominant manner. They share several common features, including poorly developed dermatoglyphics, reticulate hyperpigmentation of the skin, hypohidrosis, and heat intolerance. However, NFJS typically presents with additional characteristics such as palmoplantar keratoderma and enamel defects, while DPR is characterized by the presence of diffuse alopecia. In some cases of NFJS, the reticulate pigmentation may fade after puberty and diminish with age, whereas in DPR, hyperpigmentation persists throughout life without spontaneous fading. The reticulate pattern of hyperpigmented macules is commonly observed on the trunk, neck, and proximal areas of the limbs in both conditions [3].
Histopathologically, DPR is often characterized by clumps of melanin-laden melanophages, orthokeratosis, papillomatosis, and dermal pigmentary incontinence. This case exhibited similar findings, reinforcing the diagnosis of DPR. The histopathology of DPR may sometimes be non-specific, yet in conjunction with the clinical presentation, it may be instrumental in confirming the diagnosis.
The management of DPR remains primarily supportive, as there is no definitive cure. Emollients and sun protection are recommended to manage skin discomfort. Regular monitoring for complications, such as secondary infections or psychological impact due to cosmetic concerns, is essential. Genetic counseling should be provided to the affected families to discuss the inheritance patterns and reproductive options [4].
CONCLUSION
This case underscored the importance of recognizing the characteristic clinical features of DPR, supported by dermoscopic and histopathological findings, to differentiate it from other reticulate pigmentary disorders. While management remains largely supportive, the reported improvement with topical treatments underscores the potential for symptomatic relief in DPR. This case contributed to the limited literature on DPR and emphasized the need for continued research and the development of effective treatments.
Consent
The examination of the patient was conducted according to the principles of the Declaration of Helsinki.
The authors certify that they have obtained all appropriate patient consent forms, in which the patients gave their consent for images and other clinical information to be included in the journal. The patients understand that their names and initials will not be published and due effort will be made to conceal their identity, but that anonymity cannot be guaranteed.
REFERENCES
1. Al-Hamdi KI, Ismael DK, Saadoon AQ. Dermatopathia pigmentosa reticularis:A report of a case with delayed onset alopecia and onychodystrophy. JAAD Case Reports. 2019;5:379-82.
2. Vats G, Kataria R, Sonare D, Jain V. Dermatopathia pigmentosa reticularis. Indian J Paediat Dermatol. 2018;19:77-9.
3. Maheshwari A, Garg T, Sanke S. Dermatopathia pigmentosa reticularis with Addisonian pigmentation:Atypical presentation of a rare case. Indian Dermatol Online J. 2022;13:384-7.
4. Rajan A, Itaiya V, Sakhardande S, Pai V, Shukla P. Dermatopathia pigmentosa reticularis:A rare case report and review of literature. Clin Dermatol Review. 2022;6:54.
Notes
Copyright by authors of this article. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Request permissions
If you wish to reuse any or all of this article please use the e-mail (contact@odermatol.com) to contact with publisher.
Related Articles | Search Authors in |
|
Rights and permissions
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Comments are closed.