Pigment International

: 2019  |  Volume : 6  |  Issue : 2  |  Page : 67--76

Reticulate Pigmentary Disorders: a review

Surabhi Sinha, Anita Kulhari 
 Dr. Ram Manohar Lohia Hospital & ABVIMS, New Delhi, India

Correspondence Address:
MD, DNB, MNAMS, Specialist Surabhi Sinha
Room no. 205, PGIMER building, Dr. Ram Manohar Lohia Hospital & ABVIMS, New Delhi


Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin lesions. However, there is a lack of consensus on the exact scope of the term “reticulate” pigmentary disorders. True reticulate disorders include mostly genetic disorders including dyskeratosis congenita, Dowling Degos, acropigmentation of Kitamura, Naegeli Franceschetti Jadassohn (NFJ) syndrome, X-linked reticulate pigmentary disorder, dyschromatosis symmetrica hereditaria (DSH), and dyschromatosis universalis hereditaria (DUH). We review the “true” genetic reticulate pigmentary disorders here.

How to cite this article:
Sinha S, Kulhari A. Reticulate Pigmentary Disorders: a review.Pigment Int 2019;6:67-76

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Sinha S, Kulhari A. Reticulate Pigmentary Disorders: a review. Pigment Int [serial online] 2019 [cited 2020 Jun 2 ];6:67-76
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Full Text


The term “reticulate” is commonly used for clinical description of “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin lesions. Adya et al. have proposed a classification of the reticulate disorders where they divided the disorders on the basis of the etiology.[1]

The classification is as given below:VascularCutis marmorataCutis marmorata telangiectatica congenita (CMTC)Livedo reticularis (LR)Livedo racemosaLivedoid vasculopathyReticulate purpuraPigmentaryDowling–Degos disease (DDD)Galli-Galli diseaseDermatopathia pigmentosa reticularisDyschromatosis universalis hereditaria (DUH)Reticulate acropigmentationReticulate acropigmentation of DohiReticulate acropigmentation of Kitamura (RAPK)Syndromes associated with reticulate pigmentationNaegeli–Franceschetti–Jadassohn syndromeMendes da Costa–van der Valk syndromeHoyeraal–Hreidarsson syndromePartington syndromeEpidermolysis bullosa with mottled pigmentationInfectiousConfluent and reticulate papillomatosis (CARP)Erythema infectiosumCongenital rubella syndromeMetabolicMacular amyloidosisAmyloidosis cutis dyschromicaReticular erythematous mucinosisHunter’s syndromeMiscellaneousErythema ab ignePrurigo pigmentosaNekam’s disease


Various terms have been used to describe these disorders due to lack of consensus on the exact scope of the term “reticulate” pigmentary disorders ([Table 1]).[4]{Table 1}

“Mottled” pigmentation is a broader term and includes all disorders with a variable hue, size and shape of lesions. It encompasses all the following disorders:True/genetic reticulate disordersAcquired reticular/reticulate conditionsPoikilodermasDyschromatoses

True (genetic) reticulate disorders include dyskeratosis congenita, Dowling Degos, acropigmentation of Kitamura, Naegeli Franceschetti Jadassohn (NFJ) syndrome, X-linked reticulate pigmentary disorder, dyschromatosis symmetrica hereditaria (DSH), and DUH. Though they are distinct clinically as well as histopathologically, there is some overlap in features.[5]

Approach to a Patient with Reticulate Pigmentation

Clinically, the reticulate pigmentary disorders can be classified based on the extent and distribution into acral [Table 2], flexural [Table 3], and generalized [Table 4]. They can also be divided on the basis of age of presentation (infancy⁄childhood vs. adolescent⁄adult).{Table 2}{Table 3}{Table 4}

Reticulate pigmentary disorders with onset in infancy and childhood

Disorders having presentation at birth or during early childhood usually have a genetic basis; however, they may occur late in life. Therefore a detailed family and personal history, including any drug and chemical exposure, should be obtained and complete dermatological and general physical examination should be performed. The approach to reticulate pigmentary disorders in children is given in [Figure 1].{Figure 1}

Reticulate pigmentary disorders with onset in adolescents and adults

In late-onset reticulate hyperpigmentation, predilection of lesion at particular sites is an important clue to diagnosis. The lesions are predominantly distributed over various sites like acral, flexural, truncal, and facial distribution; however, in some conditions, the distribution may be nonspecific. [Figure 2] depicts the approach in an adolescent/ adult.{Figure 2}

 Genetic Reticulate Pigmentary Disorders

Most of the “true” reticulate dermatoses are thought to be genetic. The genetic loci and the mode of inheritance are given in [Table 5]. Most of the commonly seen genetic reticulate pigmentary disorders have defects localized to keratin 5 and keratin 14 genes.[6],[7]{Table 5}

Reticulate acropigmentation of Kitamura (RAPK)

The first case was observed in Japan in 1943; since then many cases have been reported, mainly among Asian populations.[8] This autosomal dominant condition mainly presents as sporadic cases with few reports of familial occurrence. The mutations in the ADAM metallopeptidase domain 10 (ADAM10) gene causes RAPK. The encoded protein, ADAM10, is required for activation of NOTCH1 through a proteolytic mechanism, which may modulate the distribution or transport processes of melanosomes in keratinocytes.[9],[10]

Clinical and histopathological features

This gradually progressive disorder presents as slightly depressed, sharply demarcated, hyperpigmented macules on the dorsal aspects of the hands and feet gradually extending proximally, presenting in the first or second decade of life.[11] The lesions increase in number and spread centripetally with age.[5] The distinguishing feature of this disease is the presence of fine palmar pits and interruptions in dermatoglyphics [Figure 3].[12] Occasionally other sites may be involved including eyelids, face, abdominal skin, skin folds, and lingual mucosa.[12],[13],[14] It can rarely present with disseminated hypo- or depigmented macules and papules.[15]{Figure 3}

On light microscopy, hyperpigmented lesions show thinning and elongation of the rete ridges with hyperkeratosis but without parakeratosis and increased melanin pigment in the basal layer of the epidermis without pigment incontinence and increased numbers of DOPA-positive melanocytes.[16]

Differential diagnosis

Age of onset, the distribution of lesions, lack of hypopigmented macules, as well as histological and genetic findings help to distinguish RAPK from similar reticulate pigmentary disorders, most notably Dowling Degos Disease. [Table 6] lists the differences between these two conditions.{Table 6}

Treatment and prognosis

The literature does not provide a consensus regarding the best therapeutic approach for RAPK. Several treatments have been tried with varied success rates. Among topical agents, 20% azelaic acid has been used successfully.[17] Lasers including 532 nm Q-switched Nd:YAG have been tried with variable success.

Acropigmentation symmetrica of Dohi (Dyschromatosis Symmetrica Hereditaria, DSH)

DSH, also known as Acropigmentation of Dohi, was first described by Toyama in 1910 as an unknown hyperpigmentation disorder of the distal extremities.[18]

It is an autosomal dominant disorder with high penetrance, although it has been reported sporadically as well.[10] It is caused by mutation of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) on chromosome 1q21.1-q21. Adenosine deaminase encodes an RNA editing enzyme which plays areole in post-transcriptional modification of the messenger RNA (“RNA editing”). Impaired RNA editing affects the differentiation of melanoblasts during melanogenesis into hyper and hypoactive melanocytes. The affected melanoblasts are those that emigrate the farthest, namely the hands and feet, thus accounting for the distribution of the disorder.

Clinical and histopathological features

It presents as a mixture of hypo and hyperpigmented macules of various sizes arranged in a reticulate pattern on the dorsal and ventral aspects of hands and feet, and which may extend to the proximal portions of limbs (knees and elbows). It starts early in life or in infancy, with progression halting around adolescence and then remains static for life. Some patients are present with small freckle-like pigmented macules on the face with no areas of hypopigmentation. The mucosae are usually spared. The skin lesions do not exhibit photosensitivity but are more pronounced after sun exposure. The hair is involved in a distinct pattern with presence of hair hyperpigmentation in hypopigmented macules and hair hypopigmentation in hyperpigmented or normal skin.[19],[20],[21]

Dermoscopy of the pigmented areas can show reticulate pigmented spots, monotonous pigmented spots, reticulated hypopigmented spots, or monotonous hypopigmented spots.

Possible complications include acral hypertrophy, depression, psoriasis, dental anomalies, aortic valve sclerosis, and neurological manifestations in the form of brain calcification, mental deterioration, dystonia, and intracranial hemangioma. Neurological symptoms and brain calcification are of particular concern in those patients with biallelic ADAR1 mutations.[5]

Histological examination of hyperpigmented macules shows increased melanin pigment in the basal layer along with pigmentary incontinence and decreased melanin pigment in hypopigmented macules. Increased melanocyte size and dendrite elongation, which indicate active transfer of melanosomes to keratinocytes, are also seen in the hyperpigmented macules. Melanocytes are fewer in number in the hypopigmented areas and in the surrounding normal skin.[22]

Differential diagnosis

DSH needs to be differentiated from DUH presenting with lesions predominantly over extremities (will have some lesions on trunk too) and mild Xeroderma pigmentosum (XP) phenotypes with hyper and hypopigmented macules that mainly affect sun-exposed areas (distinguished by photosensitivity, actinic lesions with atrophy, xerosis, and telangiectasia) are the differentials.

Treatment and prognosis

Surgical therapy with transplantation of split thickness skin autografts has been tried. Q-switched ruby, Q-switched Nd:YAG, Q-switched alexandrite, and the 510 mm pulsed dye lasers have been used to treat hyperpigmented macules especially on face.

Dyschromatosis universalis hereditaria (DUH)

DUH was originally believed to have a localized acral form, DSH (reticulated acropigmentation of Dohi). However, a recent study found that it is different from DSH genetically where the defect is localized to 12q21-q23 loci.[23],[24] It has an autosomal dominant pattern of inheritance and has been reported from Japan and India.

The pathogenesis of DUH is still unknown, but one hypothesis suggests that it should be considered a disorder of the melanosome synthesis rate or activity and not of the number of melanocytes.[25]

A missense mutation in gene ABCB6 (ATP-binding cassette subfamily B, member 6) located on chromosome 2q35 is responsible for DUH. The skin contains ABC transporters, responsible for molecular transportation across cell membranes, which play roles in melanosome transport to surrounding keratinocytes.[26] Though DUH is considered to be prototypically similar to DSH, they are genetically distinct disorders. The former is caused by heterozygous mutations in the ABCB6 gene, while the latter is caused by mutations in the ADAR1 gene.

Clinical and histopathological features

The onset is in early childhood and presents with reticular hyper and hypopigmented macules of varying sizes first on the hands that later progresses to involve the trunk, extremities, and the face. The size of the macular pigmentation varies from a few millimeters to several centimeters. Half the patients are present with facial involvement, and the palms and soles are considered to be unusual sites of presentation. Infrequently the mucosa, hair, and nails may be involved. The nails are hyperpigmented, dystrophic with pterygium being the classic finding. In addition, DUH lesions show no atrophy or telangiectasia and neither progression nor spontaneous regression with age.[27]

Many patients with DUH have associated conditions including tuberous sclerosis, photosensitivity, neurosensory hearing defects small stature, X-linked ocular albinism, bilateral glaucoma, cataracts, insulin-dependent diabetes, primary ovarian failure, and hypothyroidism.

Histopathology from hyperpigmented macules shows an increase in melanin in the basal layer, pigmentary incontinence, and some melanophages in the upper dermis. In contrast, hypopigmented lesions exhibit decreased melanin deposition in the basal layer.

Differential diagnosis

XP can be differentiated on the basis of atrophy, xerosis, and many systemic complications including growth and mental retardation, ocular abnormalities, sunlight sensitivity, and skin cancers.

Treatment and prognosis

There is no definitive treatment for DUH. Patient education and reassurance are often enough as the condition is non-progressive. Targeting the pigmented lesion with the Q-switched alexandrite laser is an option but recurrence is inevitable.

Unilateral dermatomal pigmentary dermatosis (UDPD)

It is a segmental form of dyschromatosis which has been included under the same spectrum as DUH and DSH. In UDPD, the distribution is segmental. It is differentiated from segmental neurofibromatosis and partial unilateral lentiginosis by the mottled hyperpigmentation and hypopigmentation.[28]

Dermatopathia Pigmentosa Reticularis

It is a rare autosomal dominant ectodermal dysplasia characterized by reticular pigmentation presenting in a generalized distribution that appears at birth or early childhood. It persists throughout life, showing no tendency toward spontaneous fading.

Clinical and histopathological features

The classical triad includes universal reticulate hyperpigmentation, nonscarring alopecia and onychodystrophy. The pigmentation is most prominent on the trunk and proximal extremities. The presence of small “confetti”-like macules gives rise to a characteristic reticulate pattern. The nails show onychodystrophy, pterygium, and loss of nails during the second year of life. There is progressive alopecia involving the scalp, eyelashes, eyebrows, and axilla. In addition to this diagnostic triad, patients can present with other dermatological manifestations, such as adermatoglyphia, punctate palmoplantar hyperkeratosis, hypohidrosis or hyperhidrosis, and non-scarring acral blisters. A number of cases have been reported with corneal involvement (e.g., Salzmann’s nodular degeneration of the cornea) or punctate superficial spots in the cornea and brown pigmentation of the bulbar conjunctiva.[29]

Histology reveals clumps of melanin-laden melanophages seen in the papillary dermis in a patchy distribution without overlying epidermal hyperpigmentation.[22]

Differential diagnosis

A very close differential is Naegeli–Franceschetti–Jadassohn Syndrome (NFJS) as it shares an autosomal dominant mutation in the KRT14 gene located on chromosome 17q11.2-q21. The main distinction is based on clinical manifestations; lifelong persistence of the reticular pigmentation in DPR, but fading after puberty in NFJS, DPR has marked alopecia, absence of dermatoglyphics, hyperhidrosis, and pigmentation of the mucosa with onychodystrophy. NFJ on the contrary manifests with dental defects with little or no nail dystrophy.[30] See [Table 7] for the differences between the two conditions.{Table 7}


There is no specific treatment for DPR except for symptomatic management of cutaneous problems, such as palmoplantar keratoderma, for which topical retinoids and keratolytics may be useful.

Naegeli–Franceschetti–Jadassohn Syndrome

An infrequent autosomal dominant form of ectodermal dysplasia is NFJS, characterized by reticular hyperpigmentation, hypohidrosis with heat intolerance, and the absence of dermatoglyphics.

Clinical features

Brown-gray to brown reticular pigmentation, mostly over the abdomen, neck, trunk, axillae, groin, and perioral, periorbital, and proximal extremities, is seen. Pigmentation tends to appear spontaneously and is not preceded by inflammatory changes or bullous lesions. Patients usually start showing pigmentation at approximately 2 years of age with spontaneous regression after puberty, and pigmentation disappearing entirely by 60 years of age. This contrasts with hypohidrosis, which remains constant even after puberty. Hypohidrosis as a result of diminished sweat gland function is the most intolerable clinical manifestation because it causes discomfort and possible collapse provoked by heat, even after mild exercise.[30],[31]

Patients with NFJS have a severe enamel defect, predisposing them to early total loss of their teeth. To date, all reported cases of NFJS have been associated with hypoplastic dermatoglyphics which is a distinctive clinical feature of the syndrome.[32] A few cases of blistering lesions on the palms and soles have been reported. Additional cutaneous manifestations include diffuse palmoplantar keratoderma with linear patterns of punctate keratoses, sometimes accentuated in the creases, congenital great toenail misalignment, onycholysis, and subungual hyperkeratosis. There are no cases of growth retardation, and good health and normal intelligence have universally been described. Genetic studies have recently confirmed that DPR and NFJS are allelic, with a common mutation in KRT14. NFJS has persistent hypohidrosis and palmoplantar keratoderma, with spontaneous fading of the hyperpigmentation with advanced age. Patients are often advised to avoid strenuous exercise, as this may lead to collapse due to hypohidrosis.

Dowling-Degos disease

Syn: Dark dot disease, reticular pigment anomaly of flexures.

This is a progressive disorder of pigmentation, characterized by flexural, pigmented reticulate macules, and comedo-like papules on the back and neck. It is inherited as an autosomal dominant trait and the gene defect is believed to be localized to kertain. It is usually sporadic though some affected families have been reported. As the localization of the gene overlaps with a related condition it is also referred to as Dowling Degos—Kitamura disease.

Clinical and histopathological features

The onset is delayed—occurs in early adulthood (30–40 years). The macules gradually become confluent in a “lacelike” or reticulate pattern. Reticulate pigmentation of the flexures is seen which is gradually progressive and symmetrical. The initial sites affected are the groins and the axillae and the pigmentation insidiously progresses to involve the neck, inframammary creases, trunk, proximal arms, and the antecubital fossae. Acneiform perioral pits and comedones are the hallmark of the disease. There are also comedo-like, hyperkeratotic follicular papules on the neck and axillae and epidermal cysts. The hyperkeratotic papules are thought to arise in areas of friction. Other associated findings include hidradenitis suppurativa, keratoacanthoma, and squamous cell carcinoma. Hypopigmented macules on the trunk can be seen as an association in some cases.

Histologically, the characteristic finding is of an atrophic epidermis with long, narrow, branched rete ridges that intertwine at their bases (“antler-like” appearance).[33] Increased melanin in the basal membrane and dilated follicles with cysts can also be seen.

Differential diagnosis

Acanthosis nigricans, which should be differentiated from DDD cases presenting with red-brown hyperkeratotic papules, is distinguished clinically by velvety plaques. Darier disease is distinguished clinically by brown, warty papules in seborrhoeic areas (forehead, central chest, back, flexures, and scalp margins). Patients with DDD presenting with only pigmentary abnormalities can have overlapping features with DUH and RAPK. Histological and molecular findings help to differentiate these disorders.

Treatment and prognosis

There is no effective therapy. Many topical medications including azelaic acid, retinoic acid, hydroquinone, and corticosteroids, as well as systemic retinoids, have been tried with minimal improvement. However, there is a single report of the use of the Er:YAG laser with pulse energy of 1,000 and 1,200 mJ, which after three consecutive passes led to favorable results.[34] Probably the atrophic lesions could respond with the use of fractional lasers.


Haber’s syndrome is a disorder characterized by pigmented keratotic papules on the axilla, neck, and torso with pitted scars on the face and persistent facial erythema.[34] Galli-Galli disease is similarly characterized by reticulate hyperpigmented macules, comedo-like hyperkeratotic papules mainly of the flexures, and histopathological findings of prominent acantholysis, and is essentially an acantholytic variant of DDD.[35] Pigmentatio reticularis faciei et colli is possibly a variant of DDD which presents with hyperpigmentation of the face and neck with multiple epidermoid cysts.[36]

Dyskeratosis congenita[37]

Syn: Zinsser-Cole-Engman syndrome

This disorder is usually inherited as an X-linked recessive disorder, though AD and AR inheritance have also been reported.[38–40] The defective genes include dyskerin, TERC, TERT, NHP2, and NOP10. The genetic defect in the X-linked form is located on Xq28 (DKC1 gene for dyskerin). Autosomal-dominant inheritance is often associated with mutations in htr (hterc).

Clinical features

There is a lacy reticulate telangiectatic hyperpigmentation interspersed with areas of hypopigmentation seen on the face, neck, trunk, and upper thighs. Atrophy and cyanosis of the dorsal aspects of the hands and feet with hyperkeratosis and hyperhidrosis of palms and soles may also be present. The mucosa shows leukokeratosis which may also involve the pharynx, anorectal, and urogenital mucosae.

The nails are dystrophic with pterygium formation and the hair is thin, lusterless, and sparse. The extra cutaneous manifestations include early dental loss or extensive caries, aplastic anemia with bleeding problems and purpura, esophageal diverticuli with dysphagia, retardation of growth, hypogonadism, and mental retardation.

Treatment and prognosis

The disorder has a poor prognosis and death is the rule, often in the third decade. Associated malignancies include Hodgkin’s disease, oropharyngeal, esophageal, gastric, and pancreatic carcinomas, and squamous cell carcinomas. The cause of mortality includes malignant neoplasms, infection by opportunistic agents, failure of bone marrow, and hematological malignancies (mainly in the second or third decade)

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP)

Epidermolysis bullosa simplex (EBS) is a group of disorders characterized by intraepidermal blister formation occurring spontaneously or after minimal trauma, typically at birth or shortly thereafter. It is generally inherited in an autosomal dominant pattern, though autosomal recessive inheritance has been seen. The most common mutation responsible for EBS-MP is a missense mutation, p.pro25leu, in the KRT5 gene (proline to leucine amino acid substitution at the 25th residue of the KRT5 gene); however, a mutation in the KRT14 gene and a recently discovered EXPH5 nonsense mutation have also been reported.[38]

Clinical and histopathological features

It presents as bullae at birth or in early infancy that heal without scarring. It can be generalized or localized to the extremities. Hyperpigmentation eventually occurs later in infancy or in childhood, presenting as hyperpigmented macules in a reticular pattern often associated with hypopigmented macules. Palmoplantar hyperkeratosis, skin atrophy, and nail dystrophy can also be seen. Photosensitivity and telangiectasia have also been described in some EBS-MP patients, but no extra cutaneous involvement or increased risk of skin malignancy has been seen. Monitoring these patients is vital because, in the neonatal period, it is initially difficult to distinguish between EBS-MP which is usually followed by hyperpigmentation and other forms of EBS, as they commonly present with bullae at birth that decrease with age.

Light microscopy of hyperpigmented macules shows epidermal atrophy, increased pigmentation in the basal cells, and pigmentary incontinence. Dyskeratotic cells and basal vacuolization are also seen. The only treatment currently for EBS-MP is genetic counselling and treatment of blisters during initial presentation.

Amyloidosis Cutis Dyschromica[39],[40]

Amyloidosis refers to a group of disorders characterized by deposition of extracellular amyloid protein in various organs. Primary cutaneous amyloidosis is characterized by skin deposition of amyloid without systemic involvement. Amyloidosis cutis dyschromica (ACD), a rare variant of primary cutaneous, is primarily seen in Asian populations. Although no gene has been found to be responsible for ACD, it has an autosomal recessive inheritance pattern. The proposed pathomechanism is probably repeated epidermal damage due to ultraviolet radiation leading to amyloid deposition as a result of cytokeratin released from keratinocyte apoptosis. The reported systemic associations of ACD include atypical parkinsonism, morphea, interstitial pulmonary fibrosis, and colon cancer.

Clinical and histopathological features

The clinical features of ACD are mottled, reticular, hyper, and hypopigmented macules with generalized distribution typically presenting during childhood. There is no involvement of mucous membranes, palms and soles, or skin appendages. Onset is typically during childhood, and it is asymptomatic or accompanied by mild pruritus in most cases.

Light microscopy of the hyper and hypopigmented macules shows amorphous eosinophilic material (amyloid) in the papillary dermis, irregularly elongated rete ridges, and melanin pigment incontinence in the dermis. The eosinophilic material stains positive with Congo red, showing apple-green birefringence under polarized light, indicating amyloid deposits. Electron microscopy shows amyloid fibrils.

Various treatment modalities have been tried with mixed results; photoprotection is essential. Acitretin is a promising drug shown to be effective against ACD in several studies.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


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