Reticulate Pigmentation Research Articles

Reticulate pigmentation associated with vitamin B12deficiency

Reticulate pigmentation associated with vitamin B₁₂deficiency

Amyloidosis Cutis Dyschromica: A Rare Reticulate Pigmentary Dermatosis.

We are reporting a rare case of amyloidosis cutis dyschromica in a 41-year-old man. This is a rare form of primary cutaneous amyloidosis characterized by reticulate pigmentation with hypopigmented and hyperpigmented macules, onset in childhood, familial tendency in some, occasional mild itching and deposition of amyloid in the papillary dermis. Our case also had multiple bilaterally symmetrical hyperpigmented keratotic papules abutting the axillary vault resembling those seen in Dowling–Deogs disease. The other unusual feature in this patient was the strong family history of vitiligo, which we are unable to explain. We have also tried to explain the mechanism leading to the hyperpigmentation and hypopigmentation in amyloidosis cutis dyschromica.

Dyschromatosis symmetrica hereditaria: Report of a sporadic case in a Nigerian child

Dyschromatosissymmetricahereditaria (DSH) is one of a group of reticulate pigment disorders of the skin. It is a rare autosomal dominantly inheritedgenodermatosis, presenting as mottled admixtures of hypopigmented and hyperpigmented macules on the dorsa of the extremities. It is predominantly found among persons of Oriental origin. We hereby document the first case of dyschromatosissymmetricahereditaria in a four year old Nigerian boy who presented with progressive symmetric dyschromic lesions on the dorsa of the hands and feet, with no family history of similar lesions. The diagnosis was confirmed by the typical histologic finding of basal hyperpigmentation with normal number of melanocytes and absence of melanin incontinence from a hyperpigmented lesionKeywords: DyschromatosisSymmetricaHereditaria, Nigerian, Sporadic

The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the KRT5 gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany.

Lichen planus presenting as generalized reticulate pigmentation with sole involvement

A 61-year-old Indian male presented with gradually progressive generalized reticulate brownish pigmentation of the trunk, upper limbs, and lower limbs. The face and neck area were conspicuously spared. There was no oral, scalp or nail involvement. However, the soles showed bilaterally symmetrical well-demarcated erythematous hyperkeratotic plaques. There was no history of violaceous pruritic lesions over the body. Histopathological features of the trunk as well as sole lesions were consistent with findings of lichen planus (LP). LP pigmentosus is a variant of LP seen in Indian and other darker-skinned populations and most commonly presents as diffuse pigmentation over sun-exposed areas, mainly the face and neck. Our patient, however, presented with reticulate pattern of pigmentation, sparing the face and neck, along with lesions over both the soles. Such a manifestation in the absence of typical lesions of LP is very rare and to our knowledge this is the first such case reported from the Indian subcontinent.

A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations.

Reticulate hyperpigmentary disorders are a group of rare genetic pigmentary abnormalities which includes reticulate acropigmentation of Kitamura (RAPK), Dowling-Degos disease (DD), reticulate acropigmentation of Dohi (RAPD), Haber's syndrome, and Galli-Galli disease. A 25-year-old male presented with asymptomatic dark-colored lesions on his hands and feet with light-colored skin lesions involving the trunk since three years. Dermatological examination revealed hyperpigmented macules in a reticulate pattern involving the dorsa of the hands and feet, front and sides of the neck, axillae, periorbital region, and groin. Multiple pits were present over both palms, with breaks in dermatoglyphics. He also had multiple nonacne facial scars predominantly on the nose and malar areas. The patient had overlapping features of RAPK and DDD. In addition, he also had hypopigmented macules and acneiform facial scars. Such an overlap of features of reticulate pigmentation has not been previously reported in the literature.

X‐linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature

X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature.

Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. There was no evidence of involvement of other ectodermally derived organ.

The spectrum of reticulate pigment disorders of the skin revisited

Within the group of classical reticulate pigment disorders of the skin, Galli-Galli disease (GGD), Dowling-Degos disease (DDD), Kitamura's disease (RPK), Haber's syndrome (HS), and reticulate acropigmentation of Dohi (RAD) are included and distinguished clinically and histopathologically. The clinical appearance of the reticulate pigment disorders of the skin is similar, with slight differences in age of onset and associated disorders. The histopathologic features of reticulate pigment disorders of the skin are comparable, with the exception of the unique hallmark of suprabasal acantholysis, which can be observed exclusively in GGD. Based on a critical discussion, we recommend using major and minor defining criteria for diagnosing skin lesions compatible with the reticulate pigment dermatoses of the skin. Herein we discuss a unifying nosological concept to provide straightforward diagnoses of the reticulate pigment disorders of the skin with a therapeutic impact.

A New Isolated Genetic Syndrome with Ichthyosis: Congenital Ichthyosis, Photosensitivity, Poikiloderma, Frontal Bossing, and Hypodontia

Observation: The ichthyosis, a member of a heterogenous group of diseases characterized by abnormal cornification of the epidermis, is distinguished clinically by generalized scaling. Some variants of ichthyosis are characterized by additional manifestations such as hair shaft abnormality, hypogonadism, keratitis, deafness, skeletal changes, and mental retardation. We report a 14-yearold boy with congenital ichthyosis, photosensitivity, poikiloderma, frontal bossing, and hypodontia. On dermatological examination, there was a diffuse ichthyosiform scaling but the great flexures and face were spared as seen in ichthyosis vulgaris. Photosensitivity and reticulate pigmentation on the face were prominent. We excluded all the described syndromes associated with these findings. There was no positive family history. To our knowledge, our patient is the first report on this new genodermatosis which may be inherited in an autosomal recessive pattern.

Dyskeratosis Congenita-Two Siblings with a New Missense Mutation in the DKC1 Gene

Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.

Pruritic brownish confluent reticulated papules over the trunk of a 30-year-old woman

Conflict of interest: none declared. A 30‐year‐old woman presented with a 13‐year history of a pruritic erythematous maculopapular eruption distributed symmetrically over the chest, back and posterior neck. Recurring bouts of pruritic papules had left striking reticular hyperpigmented patches on the affected areas (Fig. 1). ... A skin biopsy was taken from an erythematous papule surrounded by hyperpigmented macules on the upper back. Histological examination under low magnification showed acanthosis and a superficial perivascular infiltration of inflammatory cells, and under higher magnification, spongiosis, lymphocytic exocytosis and vacuolar degeneration of the basal cell layer was seen (Fig. 2). ... What is your diagnosis? Prurigo pigmentosa (PP), late stage. PP is a rare inflammatory dermatosis of unknown aetiology. It was first reported in Japan, where it is found most commonly; it is rare in western countries. The clinical features are symmetrical and intensely pruritic erythematous papules, papulovesicles and vesicles appearing in a reticular pattern with a predilection for the upper part of the back, neck, shoulders, lumbosacral region and abdomen. The lesions involute in a matter of days, leaving reticulate pigmentation.1

Clinical Features of Reticulate Pigmentation of the Neck in Adult Patients with Atopic Dermatitis; Treatment with Q-switched Ruby Laser

Clinical Features of Reticulate Pigmentation of the Neck in Adult Patients with Atopic Dermatitis; Treatment with Q-switched Ruby Laser

Dyskeratosis congenita: a case report

Dyskeratosis congenita (DC) is a rare inherited condition, first described in 1960 as Zinsser-Engmann-Cole syndrome. The condition presents with a classic triad: nail dystrophy, reticulate skin pigmentation over the trunk and neck, and white plaques typically in the oral cavity. White plaques may also affect, although less frequently, the mucosal surfaces of the urethra and vagina. Variable somatic abnormalities may be present; these include: pulmonary, gastrointestinal, genitourinary, cerebral, and dental complications. Pancytopenia eventually develops, progressing to bone marrow failure; the most common cause of death. In the X-linked form, which affects mainly males, mutations arise in the DKC-1 gene which encodes for the protein dyskerin. This report details a variant case of DC affecting a 9-year-old boy. The disease progression did not follow the "classic triad" typically seen in the condition. Longstanding nail dystrophy and oral ulceration were the sole presenting features. The details of the challenges encountered during diagnosis and treatment are further discussed.

Lichen planus pigmentosus presenting as generalized reticulate pigmentation with scalp involvement

Lichen planus pigmentosus presenting as generalized reticulate pigmentation with scalp involvement

Three cases of Dowling Degos disease in two families

Dowling Degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, round-pigmented macules over axillae and groins, face, neck, arms and trunk, scattered comedo-like lesions (dark dot follicles) and pitted acneiform scars. Histopathology is diagnostic. We are hereby reporting three cases of Dowling Degos disease belonging to two families. Our first and second case belonged to the same family, whereas our third case belonged to different family. In our series, all the patients had onset after puberty. All three cases had reticulate pigmentation over face and/or flexures, black comedones and follicular pits. On histopathological examination of the skin biopsy taken from the lesion over the back, all these patients showed classical histopathological features of Dowling Degos disease. We feel that one should investigate the patient presenting with reticulate pigmentation over the face and flexures with blackish comedone-like lesions, because histopathological features of this condition are unmistakable.

Transitory pigmented purpuric dermatoses in a young Japanese female

We report a 23-year-old female patient with a 4-month history of transitory pigmented purpuric dermatoses (PPD). She was otherwise healthy and reported no history of previous medication intake and none of her family members had any disorders. Clinical examination revealed well-demarcated, brownish hyperpigmented, reticulated pigmentation with pinhead-sized purpura. The histopathological specimen was characterized by a mild epidermal hyperkeratosis, elongated rete ridges, papillomatosis and mild mononuclear cell infiltration in the superficial dermis with focal extravasations of red blood cells without siderophage. Despite prominent extravasations of red blood cells and edema both in the papillary dermis and the subpapillary layer, no definite capillaritis was seen. Based on these clinicohistopathological findings, the diagnosis of transitory PPD was considered to be most compatible. Clinicians should recognize the unique but rarely acknowledged disease as a subtype of pigmented purpuric dermatoses.

Poikilodermatous mycosis fungoides

A 60‐year‐old woman presented with a 10‐year history of pruritic patch lesions that had originated on her breast and progressed over the years to involve the lower part of the abdomen. Different cutaneous biopsies were obtained during this period revealing a superficial chronic dermatitis. She had been treated previously with intermittent cycles of medium‐strength topical steroids. This regimen was of only temporary benefit and progression of the skin lesions had occurred over the last year. The patient's medical history was otherwise unremarkable.Physical examination revealed atrophic red–brown skin with telangiectasia predominantly located on the breast (Fig. 1). Clinical examination also revealed various red‐to‐brown scaly plaques affecting the lower part of the abdomen.Representative clinical appearance with reticulate pigmentation, atrophy, scaling, and telangiectasiaimageTwo skin biopsies were obtained from the breast and the abdomen. Routine hematoxylin and eosin staining of the breast area revealed an atrophic epidermis covered by a scale of hyperkeratosis and parakeratosis. Scattered intraepidermal atypical lymphocytes were observed. In the dermis, there was a superficial band‐like infiltrate of atypical lymphocytes sparing the dermo‐epidermal interface. Pigmentary incontinence and dilated capillaries were present within the superficial dermis (Fig. 2). All of these findings were compatible with the poikilodermatous variant of cutaneous T‐cell lymphoma (CTCL). Plaques affecting the lower part of the abdomen showed clinical features of classic mycosis fungoides (MF), and histology revealed an epidermis with acanthosis, a dense band‐like infiltrate within the upper dermis, and a prominent epidermotropism with intraepidermal collections of lymphocytes. Immunohistochemical analysis of both biopsies identified the cells as CD2+, CD3+, CD4+, CD8–. Further detailed examination did not reveal any visceral or lymph node involvement.Biopsy specimen of the breast. (A) Atrophic epidermis and a superficial band‐like infiltrate (hematoxylin and eosin; original magnification, ×40). (B) Scattered intraepidermal atypical lymphocytes and melanophages within the superficial dermis (hematoxylin and eosin; original magnification, ×200)imageWhen topical mechlorethamine had no significant effect, psoralen plus UV‐A (PUVA) phototherapy was started at 0.5 J/cm2 twice weekly. After 20 treatments (cumulative dose, 143.5 J/cm2), the lesions had disappeared, leaving slight postinflammatory hyperpigmentation. No maintenance treatment was required and the patient remained in complete remission during a 14‐month follow‐up period.

Dermatopathia Pigmentosa Reticularis

Dermatopathia pigmentosa reticularis is a rare inherited pigmentary disorder of the skin characterized by generalized reticulate hyperpigmentation, nonscarring alopecia and onychodystrophy. The reticulate pigmentation occurs at birth or during early childhood. We hereby report a 12-year-old Indian patient with this disorder.

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation of the flexures. By direct DNA sequencing, we have identified a frameshift mutation in exon 1 of KRT5 in the proband from an extended Spanish DDD kindred. Cloning of PCR products confirmed that this was a 2-bp deletion mutation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 polypeptide, designated p.S148fsX30. These data confirm that haploinsufficiency for K5 causes DDD and points to a prominent role for the keratin intermediate filament cytoskeleton within basal keratinocytes in epidermal pigment biology.