eMedicine Specialties > Dermatology > Pediatric Diseases

Dermatopathia Pigmentosa Reticularis

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Coauthor(s): Hong-Duo Chen, MD, PhD, Director, Immunodermatological Key Laboratory, China; Professor, Chairman, Department of Dermatology, Number 1 Hospital, China Medical University
Contributor Information and Disclosures

Updated: Feb 1, 2008

Introduction

Background

Dermatopathia pigmentosa reticularis (DPR) is a very rare disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Many other dermatologic findings have been associated with this triad. These findings include adermatoglyphia, hypohidrosis or hyperhidrosis, palmoplantar hyperkeratosis, and acral dorsal nonscarring blisters.¹ The reticulate pigmentation of DPR occurs at birth or during early childhood.

Dereure² noted that Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and DPR are 2 allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14.

Pathophysiology

NFJS and DPR may be variations on the same genetic defect. The 2 syndromes are both allelic, both caused by dominant mutations in KRT14.

NFJS and DPR are ectodermal dysplasias. They are inherited in an autosomal dominant fashion.³ Both manifest with the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in NFJS, whereas diffuse alopecia is only seen in DPR.

Still, the relationship of NFJS must be further clarified. In some NFJS pedigrees, the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, leading to early total loss. All patients with NFJS lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Congenital malalignment of the great toenails can occur.⁴

Sprecher et al⁵ assessed linkage for chromosome 17q in a large Swiss family with NFJS. Band 17q has been postulated to contain the gene for NFJS.⁶ Sprecher et al⁵ found a considerably narrow NFJS gene region, from 27 cM to 6 cM, flanked by D17S933 and D17S934, with a maximum multipoint logarithm of the odds score of 2.7 at marker locus D17S800. In addition, Sprecher et al⁵ studied a small family with DPR and reported that the linkage data they assembled suggested that DPR may map to band 17q. On 17q, the NFJS critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes.⁶

Frequency

United States

This condition is rare. Approximately 4 cases of DPR have been reported in the United States.

International

Since first described in 1958, approximately 12 cases have been reported. Most of the cases were reported in Europe, with rare reports in America and Asia. Brar et al⁷ noted it in a 12-year-old Indian patient.

Mortality/Morbidity

No morbidity and mortality rates of DPR have been reported.

Race

Although most cases are reported in the European and US literature, no evidence indicates that the disease is associated with any particular race.

Sex

No sex predilection is documented.

Age

The reticulate pigmentation occurs at birth or during early childhood.

Clinical

History

The primary clinical feature of DPR is the occurrence of reticulate hyperpigmented macules at birth or in early childhood, usually by age 2 years.
 
The hyperpigmentation persists throughout life, showing no tendency of spontaneous fading. The reticulate network of hyperpigmented macules occurs particularly on the trunk, neck, and proximal areas of the limbs.

Physical

Most reported cases have demonstrated a clinical triad of reticulate hyperpigmentation, mild nonscarring alopecia, and mild onychodystrophy. Other associated features may include the following:

• Punctate or diffuse palmoplantar hyperkeratosis
• Darkly pigmented nipples
• Nonscarring blisters on the dorsa of hands and feet following minor trauma or sun exposure
• Hyperhidrosis or hypohidrosis
• Adermatoglyphia (loss of dermal ridges on fingers and toes)
• Thin eyebrows and sparse pubic and axillary hair

Causes

DPR is believed to be a genetic disorder with probable autosomal dominant inheritance.³

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