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Spectrum of "Mottled" Pigmentary Disorders * Hyperpigmented freckle like macules arranged in various patterns including disorders with whorled/linear morphology **Includes "reticular/net like'' pattern ¶ Disorders with admixture of irregular small sized hyerpigmented and hypopigmented macules
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Reticulate pigmentary disorders is a term that is loosely defined to include a spectrum of acquired and congenital conditions with different morphologies. The presentations vary from the reticular or net like pattern to the" freckle like" hyper and hypopigmented macules that are usually restricted to the true genetic "reticulate" pigmentary disorde...
Contexts in source publication
Context 1
... true reticulate disorders classically include dyskeratosis congenita, Dowling Degos, acropigmentation of Kitamura, Naegeli Franceschetti Jadassohn (NFJ) syndrome, X linked reticulate pigmentary disorder, dyschromatosis symmetrica hereditaria and dyschromatosis universalis hereditaria. [8] The acquired disorders [ Figure 1], [ Table 1] have a pattern of reticulate pigmentation with macules of a size larger than the "freckle" like morphology of the true genetic reticulate pigmentary disorders. A minority of the acquired disorders have the classic "net like"/"reticular" pattern and include lichen planus pigmentosus, Riehl's melanosis [ Figure 2], erythema ab igne [ Figure 3], cutis marmorata, livedo reticularis and post inflammatory hyperpigmentation [2] amongst other conditions [ Table 1]. ...
Context 2
... of the acquired conditions [ Table 1] have an admixture of hyperpigmented and hypopigmented macules which is strictly not in consonance with the definition of reticulate pigmentation [Box 1]. To encompass the differing morphology of the acquired and genetic forms of reticulate pigmentation [1][2][3][4][5][6][7][8] the umbrella term, mottled pigmentation [Box 1] is ideal and includes in addition to the true/genetic reticulate disorders, acquired reticular/reticulate conditions, poikilodermas and dyschromatoses [ Figure 1 and Table 1]. ...
Context 3
... presence of small "confetti" like macules gives rise to a characteristic reticulate pattern. The nails show onychodystrophy and loss of nails, with formation of pterygium [ Figure 10a] during the second year of life. There is progressive alopecia involving the scalp, eyelashes, eyebrows and axilla. ...
Context 4
... features include hypohidrosis or hyperhidrosis, punctuate palmoplantar keratoses, absent dermatoglyphics, and non-scarring acral blisters. [14] Fine punctate spots on the cornea and brown pigmentation of the bulbar conjunctiva have been also reported [ Figure 10b]. ...
Context 5
... Autosomal-dominant inheritance is often associated with mutations in htr (hterc). [39] Clinical features There is a lacy reticulate telangiectatic hyperpigmentation interspersed with areas of hypopigmentation [ Figure 12a] seen on the face, neck, trunk and upper thighs. [38] Atrophy and cyanosis of the dorsal aspects of the hands and feet with hyperkeratosis and hyperhidrosis of palms and soles may also be present. ...
Citations
... This indicates a flaw in the interaction between keratinocytes and melanocytes, which might subsequently impact the regulation of pigment in melanocytes. Recently, we happened to see three cases of reticulate hyperpigmentation with clinical overlaps [2]. ...
... The specific therapy produced positive outcomes after three successive iterations. Using fractional lasers can help improve the response in the atrophic lesions [2]. ...
Reticulate pigmentary disorders are autosomal dominant pigmentary disorders caused by abnormalities in the keratin 5 and keratin 14 genes. Here, we report three cases of reticulate hyperpigmentation disorders with clinical overlaps of the reticulate acropigmentation of Kitamura, Dowling-Degos disease (DDD), and dyschromatosis symmetrica hereditaria (DSH), all three having limited treatment options.
... Topical corticosteroids: Topical corticosteroids have generally been ineffective in most GGD cases, providing only occasional relief from itching and burning without significant clinical or histopathological improvement [19,31,57,78]. In some instances, the use of topical steroids has even resulted in worsened symptoms [6,34]. ...
... Antibiotics: Antibiotics, particularly macrolides such as azithromycin, clarithromycin, and erythromycin, have rarely been used in GGD and are primarily employed in the treatment of reticulated pigmentary disorders of the skin [5,78]. ...
Galli–Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas. A distinct atypical variant exists, which features brown macules predominantly on the trunk, lower limbs, and extremities, with a notable absence of the hallmark reticulated hyperpigmentation in flexural areas. This review includes a detailed literature search and examines cases since GGD’s first description in 1982. It aims to synthesize the current knowledge on GGD, covering its etiology, clinical presentation, histopathology, diagnosis, and treatment. A significant aspect of this review is the exploration of the genetic, histopathological, and clinical parallels between GGD and Dowling-Degos disease (DDD), which is another rare autosomal dominant genodermatosis, particularly focusing on their shared mutations in the KRT5 and POGLUT1 genes. This supports the hypothesis that GGD and DDD may be different phenotypic expressions of the same pathological condition, although they have traditionally been recognized as separate entities, with suprabasal acantholysis being a distinctive feature of GGD. Lastly, this review discusses the existing treatment approaches, underscoring the absence of established guidelines and the limited effectiveness of various treatments.
... [2] Familial gigantic melanocytosis may clinically mimic other disorders such as lichen planus pigmentosus, dyschromatosis universalis hereditaria, reticulate acropigmentation of Kitamura, acropigmentation of Dohi, Dowling-Degos disease, Fanconi's anemia, and dyskeratosis congenita. [5] Table 2 shows common disorders with reticulate pigmentation and their associated features. [5,6] Our case had an unusual presentation of the disease, referred to as familial melanopathy with gigantic melanocytes, [1] as it was a female who had a delayed age at onset without familial association. ...
... [5] Table 2 shows common disorders with reticulate pigmentation and their associated features. [5,6] Our case had an unusual presentation of the disease, referred to as familial melanopathy with gigantic melanocytes, [1] as it was a female who had a delayed age at onset without familial association. ...
Gigantic melanocytosis is a rare and peculiar familial disorder of pigmentation. It presents as diffuse hyperpigmentation interspersed by raindrop-like hypopigmented macules predominantly involving the sun-exposed areas and later progressing to involve the photoprotected areas as well. All the cases described in the literature were observed to be commencing in the first year of life and were more common in males. Hereby, we report a 28-year-old female who presented with adult-onset gigantic melanocytosis with no similar familial history.
... Reticulate pigmentary disorders are a group of rare pigmentary genodermatoses with autosomal dominant inheritance, comprising Dowling-Degos disease (DDD), reticulate acropigmentation of Kitamura (RAPK), and reticulate acropigmentation of Dohi (RAPD), with specific arrangements and distributions in each entity. This group of dermatoses presents clinically with freckle-like hyperpigmentation seen in inherited reticulate pigmentary disorders, while acquired disorders have the morphology of a reticulate/net-like pattern [1]. They are characterized by hyperpigmented, macular lesions with or without alternating, hypopigmented macules, pits present on the palms, soles, and perioral area, and comedo-like lesions in their various morphological subtypes. ...
Reticulate pigmentary disorders (RPDs) are a group of rare autosomal dominant dermatoses with a distinctive clinical net-like pattern with specific arrangements and distributions in each entity. A forty-year-old female presented with asymptomatic, light and dark, macular lesions existing for over fifteen years with perioral scars and palmer pits and her twenty-year-old daughter beginning to develop similar lesions four years earlier. Cutaneous and histopathological examinations suggested a diagnosis of Dowling–Degos disease co-existent with reticulate acropigmentation of Kitamura in the mother and Dowling–Degos disease co-existent with acropigmentation of Dohi in the daughter. The co-existence of three infrequently encountered dermatoses with an irregular disease presentation within the family suggested the possibility of differing entities in the reticulate pigmentary group of disorders belonging to the diverse spectrums of the same disease. Key words: Reticulate pigmentary disorders, Dowling–Degos disease, Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Dohi
... However, a group of disorders with reticulate pigmentation still poses a problem regarding its categorization due to numerous conditions under the umbrella term exhibiting patterns other than reticulate yet demonstrating close similarity with terms such as dyschromia and poikilodermatous disorders. To overcome this, some authors use the broader term mottled pigmentation, that is, mixed, hyper-and/or hypopigmented macules in a blotchy pattern, to encompass all aforementioned conditions [2,3]. ...
... The intensity of pigmentation was higher in the flexures when compared to the trunk or face (Table 1). We adopted the classification proposed by Sinha [2] and Sardana [3] to further classify various RPDs, and found true RPD in seven cases, genetic disorders with secondary reticulate pigmentation in two cases, dermatoses with reticulate pigmentation in fifteen cases, and autoimmune and miscellaneous conditions in two and six cases, respectively ( Table 2). ...
Background: Reticulate pigmentation is characterized by freckle-like lesions configured to form a net-like or chicken-wire configuration with varying degrees of pigmentation. It intermingles with similar terms such as mottled pigmentation and dyschromia and poses difficulty in classification. Both genetic and acquired dermatoses may present with reticulate patterns yet may vary in morphology as well as the age of onset and presentation. Materials and methods: This was a hospital-based, descriptive, observational study conducted on thirty-two patients over a period of fifteen months at the dermatology OPD. Patients presented with reticulate pigmentary dermatoses were enrolled in the study after giving written informed consent. A detailed history and clinical examination were performed, and findings were recorded on a standard predesigned proforma. The data was analyzed with appropriate statistical tests. Results: In our study, a total of thirty-two patients with reticulate pigmentary dermatoses were enrolled, fourteen males and eighteen females, yielding a male-to-female ratio of 1:1.28. The most common age group affected was 41–50 years (28.12%). The onset of lesions was in young to middle adulthood (56.25%), followed by childhood and teenage years (34.37%). The most common disorder found was erythema ab igne (15.62%), while livedoid vasculopathy, Dowling–Degos disease, and confluent reticulate papillomatosis each constituted 9.37% of cases. Conclusion: This study assisted to incorporate the spectrum of RPD and to assess its frequency, morphological patterns, and prognosis. Owing to the paucity of research studies on RPD, the present study will be helpful in exploring future treatment modalities, thereby decreasing the enigma and concerns associated with RPD. Key words: Reticulate pigmentary dermatoses, Net-like lesions, Dyschromia
... Reticulate pigmentary disorders are a heterogeneous group of skin conditions characterized by hyperpigmented and/or hypopigmented macules with varying extent of pigment and size [1]. The term reticulate describes freckle-like pigmentary lesions with indistinct borders [2]. Reticulate pigmentary disorders encompass skin conditions that are inherited and acquired. ...
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.
... Acromelanosis albo-punctata is a rarely described entity presenting with generalized hyperpigmentation and confetti-like hypopigmented macules over dorsal surface of the hands and feet, spreading to the palms and soles. [7] The clinical profile of our patient does not fit into any of the above-described disorders and after clinicohistopathological evaluation, a diagnosis of speckled hypomelanosis was made. To our knowledge, none of the patients in the previous reports of speckled hypomelanosis had facial involvement, so we have labeled the present case as "Acquired Speckled Acro-Facial Hypomelanosis." ...
... 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: Definitions [2][3][4] 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] "Mottled" pigmentation is a broader term and includes all disorders with a variable hue, size and shape of lesions. ...
... [1] The classification is as given below: Definitions [2][3][4] 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] "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: ...
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.
... The extent and distribution of the pigmentation abnormality and the associated conditions help in the diagnosis of these conditions. [1] Atrichia is the term used for the rare diseases characterized by total or near complete absence of hair of the scalp and body. [2] Herein, we discuss an interesting case with features of reticulate dyschromia of the flexures and acral parts with atrichia, papules over the dorsal hands and feet, and delay in speech with normal teeth, nails, and sweating. ...
Disorders of reticulate dyschromia can be diagnosed on the basis of the distribution and type of
pigmentation in association with coexisting abnormalities. We describe a 4‑year‑old male child with
reticulate dyschromia of the dorsal aspects of hands and feet and over the axillae, buttocks, and
groins. The child had near complete absence of hair over body since birth. Skin‑colored firm papules
were present over dorsal aspects of hands and feet, and milestones were delayed for speech. We
discuss the probable differentials in this article and why it fits none of the existing differentials.
... The clinical presentation is with development of hyperpigmented, reticular macules on the face, trunk, axillae and groin. 1,3 The mutations causing the disease are usually found in the keratin 5 (KRT5) 4 gene and rarely in the protein O-fucosyl transferase 1 (POFUT1) 5 and protein O-glucosyltransferase 1 (POGLUT1) genes. 6 POGLUT1 and POFUT1 are components of the Notch signaling pathway, involved in the differentiation and migration of cells. ...
