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Background
These rare pigmented diseases are all characterized by a peculiar reticulate pigmentation. They are divided into various disease based upon the distribution and associated conditions.
OUTLINE
DISEASE ASSOCIATIONS CHARACTERIZATION HIDRADENITIS SUPPURATIVA
Clin Exp Dermatol. 2004 Nov;29(6):622-4. Abstract quote
This case illustrates the rare association between hidradenitis suppurativa (HS) and Dowling-Degos disease (DDD).
Furthermore the association of HS, DDD and multiple epidermal cysts has not to our knowledge been described before, but their coexistence in the same patient is likely to reflect the same follicular anomaly.
It is possible that a single underlying defect of follicular proliferation may account for the coexistence of these conditions.
Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma.Li M, Hunt MJ, Commens CA.
Department of Dermatology, Westmead Hospital, Sydney, New South Wales, Australia.
Australas J Dermatol 1997 Nov;38(4):209-11 Abstract quote A patient with hidradenitis suppurativa (HS) is described in association with Dowling Degos disease and perianal squamous cell carcinomas.
As the initial treatment for HS failed to give any satisfactory relief he sought no further medical help for the subsequent 40 years. This patient illustrates the management difficulties in HS and the need for regular surveillance to exclude the development of anogenital squamous cell carcinoma.
Previous reports of hidradenitis suppurativa in association with Dowling Degos disease are reviewed and the aetiology is discussed.
Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation.
Fenske NA, Groover CE, Lober CW, Espinoza CG.
Division of Dermatology, USF College of Medicine, Tampa 33612.
J Am Acad Dermatol 1991 May;24(5 Pt 2):888-92 Abstract quote We report a case in which one patient had Dowling-Degos disease (reticulate pigmented anomaly of the flexures), hidradenitis suppurativa, and multiple keratoacanthomas. Abnormal epithelial proliferation involving mainly the pilosebaceous apparatus has been recognized in all three conditions.
We speculate that a single underlying defect in follicular epithelial proliferation, characterized by variable expressivity, accounts for the coexistence of these clinically distinct disorders of follicular derivation.
PATHOGENESIS CHARACTERIZATION GENERAL
Reticulate pigmented anomaly of the flexures associating reticulate acropigmentation: one single entity.Crovato F, Rebora A.
J Am Acad Dermatol 1986 Feb;14(2 Pt 2):359-61 Abstract quote We describe a patient and her family in whom the clinical features of reticulate pigmented anomaly of the flexures, also known as Dowling-Degos disease, are associated with those of Kitamura's reticulate acropigmentation.
This family is the second in which the concurrence of such rare genodermatoses is reported. It seems likely that Dowling-Degos disease, and Kitamura's reticulate acropigmentation are different clinical expressions of the same entity.
Is Dowling-Degos disease the same disease as Kitamura's reticulate acropigmentation?Crovato F, Desirello G, Rebora A.
Br J Dermatol 1983 Jul;109(1):105-10 Abstract quote A patient is described with the clinical and histopathological features of both Dowling-Degos disease and Kitamura's acropigmentatio reticularis.
The possible identity of the two genodermatoses is discussed on the basis of the similarity of their clinical and histopathological features and of the presence of the two diseases in the family of the propositus.
GROSS APPEARANCE/
CLINICAL VARIANTSCHARACTERIZATION Arch Dermatol 1978;114:1150
Onset in early adult life
Both sexes
Slowly progressive
Hyperpigmentation that begins in the axillae and groin and spreads to the intergluteal and inframammary folds, neck, trunk, and arms
- Dowling-Degos disease--a heat aggravated variant.
Kossard S, Krivanek J.
Skin and Cancer Foundation Australia, Sydney, New South Wales, Australia.
Australas J Dermatol. 2001 Aug;42(3):214-6. Abstract quote
A 22-year-old woman presented with a 5-year history of a micropapular eruption localized to the flexor aspect of her limbs as well as persistent reticulate pigmentation of her neck and upper chest resembling Darier's disease.
The eruption was associated with pruritus that was precipitated by heat and was worse in summer. The axillae, groins and inframammary areas had multiple papules but lacked reticulate pigmentation. Multiple biopsies showed an epidermis with club- and antler-like rete ridges but no acantholysis or dyskeratosis.
This distinct clinical presentation may represent an unusual heat aggravated variant of Dowling-Degos disease that clinically shares features with Darier's disease and transient acantholytic dermatosis..
A case of Dowling-Degos disease suggesting an evolutional sequence.
Lee SJ, Lee HJ, Kim DW, Jun JB, Chung SL, Bae HI.
Department of Dermatology, Kyungpook National University School of Medicine, Taegu, Korea
J Dermatol 2000 Sep;27(9):591-7 Abstract quote We report a 47-year-old woman who presented with asymptomatic reticulate hyperpigmentations on the neck, lateral face, axillae, trunk, inguinal areas, and dorsa of both hands and feet.
We thought it was an unusual case in the spectrum between the pole of Dowling-Degos disease (DDD) and that of reticulate acropigmentation of Kitamura (RAK). Another interesting point was that the biopsied specimens from the abdomen, neck, and axillary lesions showed somewhat different histopathologic features from typical DDD, suggesting an evolutional sequence.
From these findings we suggest that a lichenoid inflammation may be responsible for the typical maculo-papular lesions of DDD.
Am J Dis Child 1973;126:389
X-linked and autosomal dominant
Complete syndrome may not be apparent until 2-3rd decade and includes pancytopenia and mucosal lesionsReticular hyperpigmentation and surrounds 1-cm islands of white and atrophic epidermis on the trunk
Telangiectasia
Mucosal whitish plaque lesions on the oral, vagina, urethra, and conjunctiva
Pancytopenia in 1/3 of patients, frequent cause of deathGALLI-GALLI DISEASE
Department of Dermatology, Louisiana State University Health Sciences Center, New Orleans, Louisiana 70112, USA.
Galli-Galli disease is a rare variant of the genodermatosis Dowling-Degos disease with the histologic finding of acantholysis.
We present the case of a patient who presented with reticulated pigmentary changes in the flexures as well as a pruritic papular eruption and histologic features consistent with Galli-Galli disease. A literature search revealed 3 previous case reports of Galli-Galli disease. These case reports were reviewed and summarized, and the clinical and histologic presentations were compared with those of our patient. In addition, another case report of patients with similar clinical manifestations was found and is presented herein. The differential diagnosis of Galli-Galli disease includes classic Dowling-Degos disease, transient acantholytic dermatosis, Darier's disease, and epidermolysis bullosa with mottled pigmentation.
Galli-Galli disease is best considered a subtype of Dowling-Degos disease with clinical and histologic features similar to transient acantholytic dermatosis.Galli-Galli disease: An unrecognized entity or an acantholytic variant of Dowling-Degos disease?
Markus Braun-Falco, MD
Wolfgang Volgger, MD
Siegfried Borelli, MD
Johannes Ring, MD
Rainer Disch, MDMunich, Germany, and Davos, Switzerland
J Am Acad Dermatol 2001;45:760-3 Abstract quote
Galli-Galli disease is an inherited disease characterized by slowly progressive and disfiguring reticulate hyperpigmentation of the flexures, clinically and histopathologically diagnostic for Dowling-Degos disease, but also associated with suprabasal, nondyskeratotic acantholysis.
A few patients exhibiting these features have been described, mainly in the non-English-language literature, which suggests that Galli-Galli disease is not an entity of its own, as originally thought, but is an acantholytic variant of Dowling-Degos disease.
We report a typical case of Galli-Galli disease, which supports this concept.
Arch Dermatol 1979;115:760
Autosomal dominant
Reticulate hyperpigmentation beginning on the dorsal hand and spreading to the rest of the body
May be associated with palmar pits and breaks in the epidermal rete ridge patterns
No white macules
Dermatology. 2000;200(1):57-8 Abstract quote.
Reticulate acropigmentation of Kitamura is now reported from all over the world. Additional features are being readily recognized.
Our cases had pigmentation and pits on the dorsa of the distal phalanges of the fingers and toes - the classical features - as well as widely distributed pits on the palms, palmar aspect and sides of the fingers.
The involvement in our cases was more pronounced than in the previously reported ones.
- Is the heredity of reticulate acro pigmentation of Kitamura always autosomal dominant?
Singal A, Bhattacharya SN, Baruah MC, Indrayan A, Singh N.
Department of Dermatology & STD, University College of Medical Sciences, Delhi, India.
J Dermatol. 1998 Jan;25(1):57-9. Abstract quote
Reticulate acropigmentation of Kitamura (RAK) in three patients and their families is described.
In one family, 2 women and 2 men were affected out of 9 individuals. In the other family, 6 women had lesions of reticulate acropigmentation out of total of 27 over three generations. In the third family, one man was affected. All of the cases had palmar pits; onset of lesions was after puberty in all the cases.
The apparently different hereditary patterns in these three families are striking, and autosomal dominant inheritance appears unlikely in every case.
- Bony anomalies in a patient with reticulate acropigmentation of Kitamura.
el-Hoshy K, Hashimoto K.
Department of Dermatology & Syphilology, Wayne State University School of Medicine, Detroit, MI 48201. USA.
J Dermatol. 1996 Oct;23(10):713-5. Abstract quote
Reticulate acropigmentation of Kitamura [RAPK] is a rare pigmentary genodermatosis.
This is a case report of a 23-year-old Saudi female who started manifesting the disorder in the 2nd decade. The patient had bony abnormalities in the form of absence of terminal phalanges of the 2nd, 3rd and 4th toes.
These bone anomalies are extremely rare, and the association has never been described before in the literature.
Reticulate acropigmentation of Kitamura: two case reports.Erel A, Gurer MA, Edali N.
Division of Dermatology, Gazi University, Faculty of Medicine, Ankara, Turkey.
Int J Dermatol 1993 Oct;32(10):726-7 Abstract quote BACKGROUND. Reticulate acropigmentation of Kitamura (RAK) is an autosomal dominantly inherited dermatosis. CASE
REPORTS. Two patients are described with the clinical and histopathologic features of reticulate acropigementation of Kitamura.
CONCLUSIONS. We speculate that RAK and the Dowling-Degos disease (DDD) are the same diseases.
VARIANTS OVERLAP SYNDROMES
- Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations.
Thami GP, Jaswal R, Kanwar AJ, Radotra BD, Singh IP.
Department of Dermatology and Venereology, Government Medical College and Hospital, Chandigarh, India.
Dermatology. 1998;196(3):350-1. Abstract quote
A large kindred is being reported in which reticulate acropigmentation of Kitamura (RAPK) and acropigmentation of Dohi (APD) were associated with features of Dowling-Degos disease (DDD).
The pedigree was traced through four generations and 50% of the members were found to be affected. RAPK, APD and DDD are inherited as an autosomal dominant trait with variable penetrance.
The differentiation and overlap/association of RAPK, APD and DDD is discussed.
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.
Lestringant GG, Masouye I, Frossard PM, Adeghate E, Galadari IH.
Department of Dermatology, Tawam Hospital, Al Ain, United Arab Emirates.
Dermatology. 1997;195(4):337-43 Abstract quote.
BACKGROUND: The spectrum of Dowling-Degos disease-reticulate acropigmentation of Kitamura (DDD-RAK) is a group of rare autosomal dominant disorders that have in common a unique histological picture of hyperpigmented digitate epidermal 'downgrowths'. Patients with the DDD-RAK spectrum may show hyperpigmented macules and papules, facial pits, breaks in dermatoglyphics and epidermoid cysts.
OBSERVATIONS: We examined 5 unrelated patients, 3 females and 2 males (age range 22-35 years), who presented with clinical and histological features of the DDD-RAK spectrum. In addition, the patients presented with hypo- or depigmented macules and papules. Histopathology of the lesions revealed features that were identical to DDD-RAK; there were, however, diminution or absence of pigmentation. Family histories for pigmented lesions and leukoderma were positive in all patients and consistent with autosomal dominant modes of inheritance.
CONCLUSION: These 5 cases, together with isolated reports in the literature of achromic lesions with histological features of DDD-RAK, point to the hypothesis that achromic macules and papules may be a feature of the DDD-RAK spectrum.
HISTOLOGICAL TYPES CHARACTERIZATION Pigmented filiform epidermal projections involving the follicular infundibulum and epidermis
No increase in melanocytes
Mainly concentrated in the keratinocytes of the elongated rete ridges, particularly along the lower tipsIncrease in dopa-positive melanocytes with keratinocytes containing relatively few melanosomes suggesting a defective transfer mechanism
Melanophages in upper dermisEpidermal atrophy with increased number of basal melanocytes
SPECIAL STAINS/
IMMUNOPEROXIDASECHARACTERIZATION ELECTRON MICROSCOPY
Ultrastructure of early pigmentary changes in Dowling-Degos' disease.Grosshans E, Geiger JM, Hanau D, Jelen G, Heid E.
J Cutan Pathol 1980 Apr;7(2):77-87 Abstract quote Dowling-Degos' anomaly is characterized by a reticular and spotted pigmentation of the skin folds; this pigmentary disturbance, occurring most often in women, is a dominant inherited genodermatosis which worsens progressively and may exhibit in the early phase rapid changes in severity after emotional stress.
In a 9-year-old girl, an electonmicroscopic study of pigmented lesions showed a strong melanocytic activity with quantitative increase of the melanosomes; the average size of the melanosomes was not different when compared to normal Caucasoid skin, but in the keratinocytes they were distributed according to a dispersed pattern as in black skin.
The pigmentary state of Dowling-Degos' disease is another example of melanocyte-keratinocyte interaction where the epidermal melanin pattern and the size of pigment granules are not in striking correlation. An accelerated rate of melanogenesis and pigmentation may be another factor determining a non-aggregated distribution of the melanosomes within the keratinocytes. The nature of the stimulus of pigmentation in these skin areas which are not sun-exposed is still unclear.
DIFFERENTIAL DIAGNOSIS KEY DIFFERENTIATING FEATURES CHLORACNE
Dowling-Degos' disease mimicking chloracne.Kershenovich J, Langenberg A, Odom RB, LeBoit PE.
Department of Dermatology, University of California, San Francisco 94143.
J Am Acad Dermatol 1992 Aug;27(2 Pt 2):345-8 Abstract quote We describe a patient with clinical features that resembled severe chloracne; however, histopathologic findings revealed a reticulated pigmented anomaly.
Innumerable comedones, many cysts, acneiform scarring, and flexural and facial pigmentation were noted in this patient, who is a machinist. A serum test for polychlorinated biphenyl was negative, which eliminated a diagnosis of chloracne.
The spectrum of clinical features of the histologically well-defined Dowling-Degos' disease is discussed; in this disease lesions can be flexural or acral and can appear as macules, comedones, or cysts.
PROGNOSIS AND TREATMENT CHARACTERIZATION PROGNOSIS MALIGNANCY
Dowling-Degos disease associated with squamous cell carcinomas on the dappled pigmentation.Ujihara M, Kamakura T, Ikeda M, Kodama H.
Department of Dermatology, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan.
Br J Dermatol 2002 Sep;147(3):568-71 Abstract quote We report the first case of Dowling-Degos disease associated with squamous cell carcinomas (SCCs) in the pigmented area of Dowling-Degos disease. A 64-year-old Japanese man manifested dappled pigmentation unusually localized to the buttocks, and two pigmented adenoid SCCs had developed on his left pigmented buttock.
The other findings of Dowling-Degos disease were comedone-like lesions on the face and back, a finger-like fibroma in the right popliteal fossa, dystrophic fingernails, and a large number of seborrhoeic keratosis-like lesions predominantly on the flexural areas. Another unique clinical feature was the lack of vellus hair on the whole body surface. In addition to thin branching and elongation of rete ridges with basal hyperpigmentation, immature hair follicles surrounded by fibrosis and a lace-like pattern of the hair follicle epithelia were observed histologically. These epithelial hamartomatous features were consistent with Dowling-Degos disease.
We speculate that the SCCs developed in relation to an underlying naevoid anomaly in pilosebaceous epithelia of Dowling-Degos disease.
TREATMENT ANTIBIOTICS Six cases of confluent and reticulated papillomatosis alleviated by various antibiotics
Ho-Sun Jang, etal.
J Am Acad Dermatol 2001;44:652-5 Abstract quote
Confluent and reticulated papillomatosis (CRP) is a relatively rare disorder manifested by persistent papules that are confluent in the center and reticulated at the periphery with a characteristic distribution. Recently, many cases of CRP treated with minocycline have been reported, and their effect seems to be derived from their antibiotic properties.
We report 6 cases of CRP alleviated by various antibiotics. The patient described in case 1 is a 16-year-old girl whose disease was alleviated by oral minocycline, 100 mg daily for 8 weeks. Cases 2 and 3 describe an 18-year-old woman and a 17-year-old male adolescent whose disease was reduced by oral fusidic acid, 1000 mg daily for 4 weeks. Case 4 describes a 14-year-old girl who received oral clarithromycin, 500 mg daily for 5 weeks. Case 5 describes a 22-year-old woman whose disease was reduced by oral erythromycin, 1000 mg daily for 6 weeks. Case 5 reports a 24-year-old man who received oral azithromycin, 500 mg daily 3 times per week for 3 weeks.
Complete clearing after treatment with antibiotics raises the possibility that CRP is triggered by a bacterial infection and that antibiotics are the treatment of choice for CRP.
AZELAIC ACID
- Treatment of reticulate acropigmentation of Kitamura with azelaic acid. An immunohistochemical and electron microscopic study.
Kameyama K, Morita M, Sugaya K, Nishiyama S, Hearing VJ.
Department of Dermatology, Kitasato University School of Medicine, Sagamihara, Japan.
J Am Acad Dermatol. 1992 May;26(5 Pt 2):817-20. Abstract quote
No successful therapy has been reported for reticulate acropigmentation of Kitamura, which is an autosomal dominant dermatosis. We treated a patient with 20% azelaic acid ointment. Within several weeks the pigmentation was remarkably decreased and no side effects were observed.
Histologic examination revealed an increased number of dopa-positive melanocytes. These cells reacted strongly to staining with antityrosinase antibody or antityrosinase-related protein antibody. Electron microscopic findings showed many melanosomes within melanocytes, keratinocytes, and melanophages.
These findings suggest that the hyperpigmentation of reticulate acropigmentation of Kitamura is the result of an excess amount of melanin production caused by activation of melanocytes in the basal layer.CALCIPOTRIOL
- Calcipotriol treatment of confluent and reticulated papillomatosis (Gougerot-Carteaud syndrome).
Carrozzo AM, Gatti S, Ferranti G, Primavera G, Vidolin AP, Nini G.
Department of Dermatology, University of Rome Tor Vergata, Italy.
J Eur Acad Dermatol Venereol. 2000 Mar;14(2):131-3. Abstract quote
Gougerot-Carteaud syndrome or confluent and reticulated papillomatosis (CRP), was first described by Gougerot and Carteaud as dermatosis. It is generally considered a rare condition. The eruption consists confluent, flat, brown papules localized primarily to the intermammary and interscapular regions with subsequent spread to the breast and abdomen; at the periphery, the papules spread out forming a pigmented reticulated pattern.
At present, the aetiology of CRP remains unknown. The two prominent theories are an abnormal host response to fungi and a keratinization defect. Other hypothesis include photosensitivity, genetic factor, amyloidosis cutis and endocrinopathy.LASER
Successful treatment of Dowling-Degos disease with Er:YAG laser.Wenzel J, Tappe K, Gerdsen R, Uerlich M, Philipp-Dormston W, Bieber T, Petrow W.
Department of Dermatology, University of Bonn, Bonn, Germany.
Dermatol Surg 2002 Aug;28(8):748-50 Related Articles, Links
Successful treatment of Dowling-Degos disease with Er:YAG laser.Wenzel J, Tappe K, Gerdsen R, Uerlich M, Philipp-Dormston W, Bieber T, Petrow W.
Department of Dermatology, University of Bonn, Bonn, Germany. joerg.wenzel@ukb.uni-bonn.de
BACKGROUND: Dowling-Degos disease is a rare condition with a genetically determined disturbance of epidermal proliferation. The typical clinical picture is a reticulate pigmentation of the flexures, genital folds, and pectoral skin areas. Many different treatment options have been tried in recent years without a convincing therapeutic benefit. OBJECTIVE: To determine the effectiveness of Er:YAG laser in Dowling-Degos disease. METHODS: A 44-year-old woman suffering from Dowling-Degos disease was treated with the Er:YAG laser pulse energy between 1,000 and 1,200 mJ, three consecutive passes. RESULTS: The laser treatment led to a good clinical result. CONCLUSION: Our case suggest that treatment with the Er:YAG laser might be a successful strategy in Dowling-Degos disease.
TAZAROTENE
- Confluent and reticulated papillomatosis: response to tazarotene.
Bowman PH, Davis LS.
Section of Dermatology, Medical College of Georgia, Augusta, 30912, USA.
J Am Acad Dermatol. 2003 May;48(5 Suppl):S80-1. Abstract quote
Confluent and reticulated papillomatosis of Gougerot and Carteaud is an uncommon dermatosis of unclear cause that can be recalcitrant to therapy.
We report the case of an 11-year-old black girl with the eruption in whom it completely cleared using tazarotene gel.
The treatment was well-tolerated and we suggest considering topical tazarotene as an alternative to systemic retinoid therapy.TRETINOIN
- Response of confluent and reticulate papillomatosis of Gougerot and Carteaud to topical tretinoin.
Schwartzberg JB, Schwartzberg HA.
University of Miami School of Medicine, Florida, USA.
Cutis. 2000 Oct;66(4):291-3 Abstract quote.
Confluent and reticulate papillomatosis (CRP) of Gougerot and Carteaud is a rare cutaneous disorder characterized by persistent, usually asymptomatic, dark papules and plaques centrally located on the back, intermammary, and epigastric areas. The eruption spreads out peripherally into a fading reticulated pattern. The pathogenesis is poorly understood, but there are several theories. Many different treatments, with varying success rates, have been attempted.
We present 3 patients with CRP who had excellent results in the areas treated with topical tretinoin. The only difficulty with therapy is applying the tretinoin to the back, which sometimes necessitates a second person. However, if this situation can be overcome, topical tretinoin provides an effective, safe alternative to systemic therapies. Response to tretinoin provides support that CRP is a disorder of keratinization.
Finally, the fact that 2 of the patients were brothers may support the idea that CRP has a hereditary influence.Macpherson and Pincus. Clinical Diagnosis and Management by Laboratory Methods. Twentyfirst Edition. WB Saunders. 2006.
Rosai J. Ackerman's Surgical Pathology. Ninth Edition. Mosby 2004.
Sternberg S. Diagnostic Surgical Pathology. Fourth Edition. Lipincott Williams and Wilkins 2004.
Robbins Pathologic Basis of Disease. Seventh Edition. WB Saunders 2005.
DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
Fitzpatrick's Dermatology in General Medicine. 6th Edition. McGraw-Hill. 2003.
Weiss SW and Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. Fifth Edition. Mosby Elesevier 2008
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