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Year : 2022  |  Volume : 6  |  Issue : 1  |  Page : 54

Dermatopathia pigmentosa reticularis: A rare case report and review of literature

Department of Dermatology, Venereology and Leprology, Goa Medical College, Panjim, Goa, India

Date of Submission05-Sep-2020
Date of Decision19-Dec-2020
Date of Acceptance13-Mar-2021
Date of Web Publication25-Feb-2022

Correspondence Address:
Aswath Rajan
633c, Thirumalai Nagar, Near TSP Camp., Palani - 624 601, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cdr.cdr_119_20

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Dermatopathia pigmentosa reticularis is a rare autosomal dominant disorder. It is an ectodermal dysplasia, characterized by a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. The mode of inheritance is probably autosomal dominant associated with mutation in keratin 14 on chromosome 17. We report the case of a 31-year-old male presented with reticulate hyperpigmentation all over the body with diffuse noncicatricial alopecia and onychodystrophy of the finger and toe nails. He also had palmoplantar hypohydrosis and poorly developed dermatoglyphics. There were no other findings of ectodermal-derived organ involvement.

Keywords: Adermatoglyphia, alopecia, dermatopathia pigmentosa reticularis, dermoscopy, hypohydrosis, reticulate pigmentation

How to cite this article:
Rajan A, Itaiya V, Sakhardande S, Pai V, Shukla P. Dermatopathia pigmentosa reticularis: A rare case report and review of literature. Clin Dermatol Rev 2022;6:54

How to cite this URL:
Rajan A, Itaiya V, Sakhardande S, Pai V, Shukla P. Dermatopathia pigmentosa reticularis: A rare case report and review of literature. Clin Dermatol Rev [serial online] 2022 [cited 2022 Sep 25];6:54. Available from: https://www.cdriadvlkn.org/text.asp?2022/6/1/54/338581

  Introduction Top

Dermatopathia pigmentosa reticularis (DPR) is a very rare disorder of ectodermal origin, with autosomal dominant inheritance. It is characterized by the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.[1] Mutations in the KRT14 gene located on chromosome 17 are found to be associated with the disease.[2] It was first described in 1958, by Hauss and Oberste-Lehn,[3] following which <25 cases have been reported so far in the literature across the globe with three case report in India till date.[4],[5]

  Case Report Top

A 30-year-old male presented to the skin outpatient department with asymptomatic, generalized, multiple hyperpigmented skin lesions from the age of 3 years. The lesions were initially over the palms and soles, later gradually increased to involve the entire body at the age of 10 years. Scalp hair growth was sparse since birth and associated with diffuse thinning. The patient never had any haircut because the length of the hair was never more than 2–3 cm, and there is a complete loss of hair on the scalp for 5 years. Pubic and axillary hair was also sparse. There was a history of nail changes and palmoplantar hypohydrosis. The patient also gave a history of few nonscarring blisters over the elbow and dorsum of hand in his childhood. There was no history of any neurological, ophthalmological, hearing, or dental abnormalities. There was no family history of similar problems. The patient was born out of nonconsanguineous marriage, and his siblings are normal. Patient's physical, social, and mental development was also normal.

On examination

There was generalized symmetrical involvement of extremities, trunk, face, and neck in the form of hyperpigmentation in a reticulate fashion [Figure 1] and [Figure 2]. Palm and sole creases also had prominent hyperpigmentation and dermatoglyphics were poorly formed [Figure 3], [Figure 4], [Figure 5]. Scalp showed diffuse noncicatricial alopecia. Axillary and pubic hair was also sparse and thinned [Figure 6]. There was marked thinning of the lateral one-third of the eyebrows. Onychodystrophy and melanonychia of the finger and toenails were seen [Figure 3]. He had few hyperpigmented macules over the tongue [Figure 7]. The rest of the oral mucosa and teeth were normal. No ocular or auditory involvement was seen. His IQ and stature were within the normal limits.
Figure 1: Clinical image of Dermatopathia Pigmentosa Reticularis showing reticulate pigmentation, nonscarring alopecia, sparse facial hair with loss of lateral one-third of the eyebrows

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Figure 2: Clinical image showing diffuse reticulate pigmentation seen over trunk

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Figure 3: Clinical image showing onychodystrophy, longitudinal melanonychia with reticulate pigmentation

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Figure 4: (a-b) Clinical image showing diffuse reticulate pigmentation seen over the palms and soles

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Figure 5: Clinical image of fingers showing loss of dermatoglyphics

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Figure 6: (a-b) Image showing sparse axillary and pubic hair

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Figure 7: Tongue showing multiple hyperpigmented macular lesions

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Dermoscopy revealed generalized increased thickness of reticular lines, with perifollicular pigmentation and few grayish dots and clods over the extremities and trunk [Figure 8] and [Figure 9]. Face show accentuated pseudoreticular pattern and reticuloglobular pigmentation with honeycomb pattern and grayish blue clods [Figure 10] and [Figure 11]. Scalp revealed diffuse nonscaring alopecia with honeycomb pattern of pigmentation [Figure 12]. Palm and soles showed double-line parallel furrow and lattice-like pattern with fingers showing the absence of dermatoglyphics at some places and poorly formed dermatoglyphics at some places [Figure 13] and [Figure 14]. Furrow ink test revealed uniform spreading of ink without predominantly accumulating in furrows indication absence of furrows and ridge [Figure 15].
Figure 8: Dermoscopy of the chest and abdomen reveals generalized increased thickness of reticular lines

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Figure 9: Dermoscopy of the back showing accentuation of reticular pattern with perifollicular pigmentation (black arrow)

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Figure 10: Dermoscopy of face show irregular accentuation of pseudoreticular and reticuloglobular pattern with grayish blue clods (black circle), brown-gray granules (black arrows), follicular pigmentation (red circles)

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Figure 11: Dermoscopy of face show irregular accentuation of reticuloglobular pattern with honeycomb like pigmentation (white arrow), follicular gray-brown clods (black circles)

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Figure 12: Scalp revealed diffuse nonscaring alopecia with uniform honeycomb pattern of pigmentation

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Figure 13: Dermoscopy of palms and soles shows double-line parallel furrow of pigmentation in a lattice-like pattern

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Figure 14: Dermoscopy of fingers showing the complete absence of dermatoglyphics at some places and poorly formed dermatoglyphics at some places

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Figure 15: Furrow ink test revealed poor fingerprint pattern without predominantly accumulating in furrows indication absence of furrows and ridge

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Histopathology showed mild acanthosis, increased pigmentation of the basal cell layer with numerously scattered melanophages within the reticular dermis, and absence of appendages [Figure 16].
Figure 16: Histopathology showed mild acanthosis, increased pigmentation of the basal cell layer with numerously scattered melanophages within the reticular dermis and absence of appendages

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Complete haemogram, liver function test, renal function test, coagulation studies and urine analysis were found to be within normal limits. Nail clippings for fungus were negative. Histopathology revealed basal layer hyperpigmentation with the absence of skin adnexa and scattered melanophages within reticular dermis. The diagnosis of DPR is made. Due to monetary constraints, mutational analysis was not done.

  Dermatopathia pigmentosa reticularis- A review of literature Top

DPR is a rare ectodermal disorder with autosomal dominant inheritance, characterized by a triad of generalized reticulate hyperpigmentation with confetti-like appearance, noncicatricial alopecia, and onychodystrophy.[6] Other findings associated with DPR include adermatoglyphia, palmoplantar hyperkeratosis, hypohydrosis or hyperhidrosis, nonscarring bulla on the dorsal surface of hands and feet, darkly pigmented nipples, mucosal pigmentation, atrophic areas on hands, feet, knee and elbows, with sparse eyebrows, and thin pubic and axillary hair. Rare association with digital fibromatosis, neurofibromas, and seizure disorder has also been described.[7] Some extracutaneous manifestations have been proclaimed in the literature, which include bulbar conjunctival pigmentation, fine punctate superficial spots in the cornea, Salzmann's nodular degeneration of the cornea, and early-onset gastric carcinoma. The pigmentation can occur during birth or at childhood, and it generally persists throughout the life. The rest of its manifestations described appear later in life.[7]

Histopathology of DPR is not diagnostic, the findings reported previously include mild orthokeratosis, papillomatosis, increased pigmentation in the basal cell layer, liquefactive degeneration with pigment incontinence, and sparse perivascular infiltrate.[6]

Hauss and Oberste-Lehn in 1958 first described DPR in two biological sisters. Till date, around <25 cases of DPR have been reported. Most of the cases were reported in Europe, and some reported in the USA and Asia; there was no race or sex predilection for DPR. The detailed analysis of the cases reported globally is depicted in [Table 1].
Table 1: Summary of cases of dermatopathia pigmentosa reticularis reported so far in the literature

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Dermoscopy is a noninvasive tool that can visualize subtle deeper structure, not visible to naked eye. It has shown its excellence in evaluating many pigmented disorders in the past. However, dermoscopy of DPR is not mentioned in the literature. Hence, it is described in brief here. The universal pattern of pigmentation observed in the dermoscopy is the reticular pattern, where the lines corresponds to the pigment in the rete ridges and holes corresponds to tip of dermal papillae. Dermoscopy in this patient revealed preserved reticular pattern with increased thickness of reticular lines suggesting aggregation of pigmentation along rete ridges. Some areas showed localized brownish clods in the holes indicating cluster of pigmentation at dermal papilla. It also revealed perifollicular grayish brown circles and some showing perifollicular obliteration suggesting follicular desire for pigmentation in the disease. The pseudoreticular pattern of the face is preserved in the patient with accentuation. Reticuloglobular pattern of pigmentation, grayish-brown clods and dots, honey-comb pattern, pigmented specs s/o mixed melasma-like pattern of pigmentation seen on face. Scalp also showed brown clods and dots with preservation of honeycomb pattern of pigmentation with one or two black dots without evidence if structureless white areas (fibrosis or atrophy) indicating diffuse noncicatricial alopecia. Dermoscopy of palms and soles exhibit poorly formed dermatoglyphics at some places and absence of dermatoglyphics at finger tips. The furrow ink test revealed double-line parallel furrow and lattice-like pattern of pigmentation on palm. However, there was a diffuse spreading of ink on the distal finger and toe tips, without accumulating at furrows suggesting complete absence of ridges and furrows at finger and toe tips.

One of the close differential diagnoses of DPR is Naegeli-Franceschetti-Jadassohn syndrome (NFJS). Both are autosomal dominant ectodermal dysplasia, an allelic disorder resulting from mutations in the KRT14 p. R125C gene located on chromosome 17q. Various heterozygous frameshift and nonsense mutations in the region encoding the nonhelical domain (E1/V1) is associated with both conditions, resulting in early termination of the translation process, suggesting KRT14 do play an imperative role in dermatoglyphic and sweat gland ontogenesis.[2] Hence DPR and NFJS both have poorly developed dermatoglyphics (i.e., abnormalities of ridge hypoplasia and dissociation), reticulate hyperpigmentation and hypohydrosis. DPR can be differentiated from NFJS by the life-long persistence of the skin hyperpigmentation, diffuse noncicatricial alopecia, and absence of dental enamel anomalies. Teeth are always affected in NFJS and diffuse alopecia is always seen in DPR. Affected teeth may show abnormal shape, supernumerary teeth, enamel defects, and finally loss of teeth. In some NFJS patient, the reticulate hyperpigmentation may fade after puberty and disappear completely in their old age.[26] Dermatoglyphic hypoplasia has been reported by Sparrow et al. in 1975 in NFJS. In contrast, DPR can have either hypoplasia or adermatoglyphia. The ultrastructural examination can reveal high apoptotic activity of basal cell layer in both condition where KRT14 is expressed, indicating apoptosis is the decisive mechanism in the pathogenesis of both.[13]

Differential diagnosis includes other true reticulate genodermatosis such as dyskeratosis congenita (DKC), reticulate acropigmentation of Kitamura, Haber's syndrome, Dowlings degos disease, X-linked reticulate pigmentation disorder, Dyschromatosis symmetrica hereditaria, and Dyschromatosis universalis hereditaria. Most of these reticulate pigmentary disorders are associated with keratin 5 and 14 gene mutation resulting in the down regulation of keratinocyte junctional proteins with melanosome mistargeting and defective pigmentary regulation.[27]

DKC (Zinsser-Cole-Engman syndrome) is mostly an x-linked recessive inheritance, common in male child older than 5 years, although AD and AR pattern of inheritance is also observed. It is characterized by lace-like reticulate hyperpigmentation with guttate hypopigmentation, atrophy and telangiectasia, poorly formed dermatoglyphics, palmoplantar hyperkeratosis, and nail abnormalities like pterygium, splitting and dental abnormalities similar to NFJS. Other features seen are bone marrow dysfunction, mucosal leukoplakia, aplastic anemia, hypogonadism, mental retardation, idiopathic pulmonary fibrosis, cytogenetic instability with predisposition to malignancy (mucosal squamous cell carcinoma, leukemia, and Hodgkin disease).[28]

Kitamura's disease is an autosomal dominant disease manifest with reticulate, atrophic, freckle like acral hyperpigmentation, especially on the dorsum of hands and feet with palmar pits along with breakage in the epidermal palmar ridges. Eventually, the disease spreads gradually to involve face, trunk, and limbs.

Haber's syndrome is characterized by facial erythema and telangiectasia with verruciform papules on the trunk.

Dowlings degos disease (Dark dot disease and reticular pigment anomaly of flexures) has a late onset of lace-like or reticulate pigmentation at the third or fourth decade, mostly on flexures. Perioral acneiform pitting and comedone-like hyperkeratotic follicular papules on the neck, axilla, and epidermal cysts are classical features.[29]

X-linked reticulate pigmentation disorder shows predominant pigmentation along the Blaschko's line in females.

Dyschromatosis symmetrica hereditaria (Acropigmentation symmetrica of Dohi) has generalized involvement face, trunk, limbs, palms, soles, and oral mucosa with mottled pigmentation. The nails are dystrophic with classical pterygium formation. Xerosis, hypohydrosis, silvery-grey or blonde unruly hair, dental anomalies, corneal clouding, delayed bone age, colitis, gastro-esophageal reflux, recurrent pneumonia, and neurological defects.

Dyschromatosis universalis hereditaria manifest with irregular hypopigmented and hyperpigmented macules on the ventral and dorsal aspect of hands and feet that later spread proximally. With associated features such as small stature, sensory neural hearing loss, mental retardation, photosensitization, and ocular abnormality.[30]

There is no specific treatment for DPR, except for symptomatic management of the associated conditions. For palmoplantar hyperkeratosis, topical retinoic acids or keratolytic may be beneficial. Nonscarring blisters are usually self-limiting. The patient is advised to avoid sun exposure, which may trigger blister formation.[21]

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 initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16]

  [Table 1]


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