A nonsurgical approach to painful piezogenic pedal papules

For more than 3 decades, piezogenic pedal papules have been described in the literature. While many individuals with these papules are asymptomatic, patients with trauma or connective tissue diseases can experience pain. In our case study, we describe a unique, nonsurgical approach that abates the pain of painful piezogenic pedal papule (PPPP). Three injections of a solution of equal parts betamethasone (Celestone) and bupivacaine (Marcaine) were curative in a male patient with Ehlers-Danlos syndrome type III with PPPP. In addition, combination steroid/anesthetic injection provides another method of treatment in the management of PPPP.     

Piezogenic Papules of the Feet in Healthy Children and Their Possible Relation with Connective Tissue Disorders

Piezogenic papules (PP) are pressure-induced lesions that appear on the heels while bearing weight, due to herniation of fat tissue into the dermis. They are present in the majority of adults. Because of the poor quality of connective tissue in hereditary disorders of connective tissue, such as the Ehlers-Danlos syndrome, it has been suggested that PP would be larger in number and diameter in this group of disorders. If papules are present, they might be painful as well. In view of this hypothesis 322 healthy pupils aged 4 to 13 years from a Dutch primary school were examined in order to study the prevalence and characteristics of piezogenic papules and signs of connective tissue disorders (Ehlers-Danlos) such as hypermobility and skin fragility. Of the 322 children investigated, 72% had one or more PP, the average number being five, with a mean diameter of 3.3 mm. The mean papule diameter increased with age and body weight. None of the papules were painful. Hypermobile joints occurred in 4.3% of the children. Mean body weight was the same in hypermobile and nonhypermobile children of the same age. The numbers of PP were equal in both groups, as was the number of children with and without PP. None of the children showed skin fragility. Our conclusion is that PP are present in the majority of healthy children, and are never painful.     

Painful piezogenic pedal papules: response to local etectro-acupuncture

We report the case of a woman who had pain in both heels which was exacerbated by long periods of exercise. On examination, There were small flesh-coloured papules which appeared over the medial and lateral aspects of the heels only on weight bearing. Coincidentally. she was noted to have larger flesh-coloured papules over the anterior surface of the shins. The diagnoses of painful piezogenic pedal papules and bilateral tibialis anterior muscle herniation, respectively, were made. After many attempts to control the pain, a course of electro-acupuncture was commenced. A good subjective clinical response was achieved which has been maintained by fortnightly treatments. We discuss the prevalence, pathogenesis and treatment of painful piezogenic pedal papules. We believe that our patient is the first to have ‘herniations’ at both heel and shin sites and the first to have successful sustained pain relief for painful piezogenic pedal papules     

Painful piezogenic pedal papules

A case of painful piezogenic pedal papules is reported. The histological findings are compatible with the hypothesis that the papules are caused by harniation of fat into the dermis.     

Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome

The 5 major cutaneous defects of development found in focal dermal hypoplasia, an ectomesodermal dysplasia syndrome, are: aplasia cutis congenita, multiform atrophy-like areas, striate, papillomatous, and lipomatous lesions of skin. Subepidermal lipomatosis, present in some lesions, has been reported to be due to absence of dermis or a striking underdevelopment of connective tissue with replacement by adipose tissue from herniation of subcutaneous fat through multiple areas of hypoplasia. We believe this theory to be a major error in interpretation of the microscopic findings. We have had the unique experience of studying 2 patients periodically for 27-30 years and 2 additional patients for a shorter time. Biopsy specimens were removed at intervals for analysis from the same or similar lesions (43 specimens) from these 4 individuals. Our evidence strongly supports the concept that the cutaneous defects of development involving fat cells represent heterotopic fat i.e. a fat nevus resulting from dysplasia, not hypoplasia followed by herniation of subcutaneous fat.     

Lesions resembling malignant atrophic papulosis in a patient with progressive systemic sclerosis

Malignant atrophic papulosis (MAP), or Degos syndrome, is a rare disorder of unknown etiology. It is characterized by a deep subcutaneous vasculopathy resulting in atrophic, porcelain-white papules. We report the case of a 42-year-old woman with a history of progressive systemic sclerosis who presented with painful subcutaneous nodules on her abdomen along with chronic atrophic papules on her upper and lower limbs. Biopsy results of both types of lesions revealed vascular thrombi without surrounding inflammation. We briefly review the literature on MAP and its association with various connective tissue diseases. To our knowledge, there have been no previous reports of a patient with the clinical and histologic presentations described here. Although the histologic appearance of the subcutaneous nodules was very similar to that of the atrophic papules, the clinical characteristics of the 2 types of lesions were strikingly different. It is fair to theorize that Degos lesions do not start as atrophic porcelain-white papules but rather evolve from a primary lesion. We hypothesize that these lesions start as painful red nodules and may represent part of the disease spectrum in the evolution of MAP.     

足跟压力性丘疹文献复习

足跟压力性丘疹是一种好发于足跟侧缘与底面的压力相关性皮肤损害,可见于多数健康成人及儿童。由于损害多无症状,极易被忽略,患者主要因发病率较低的疼痛性损害就诊,故该病相关文献报道较少,且多限于病例报告,部分临床医师对足跟压力性丘疹并不熟悉。本文将既往研究资料进行整理归纳,并从病因、临床表现及治疗方案选择等方面对足跟压力性丘疹进行综述,旨在指导临床诊疗。     

Unknown: Papules on the knees. Elastosis perforans serpiginosa (EPS)

Elastosis perforans serpiginosa (EPS) can occur in patients with an underlying connective tissue disorder. Down syndrome, osteogenesis imperfecta, acrogeria, Ehlers-Danlos syndrome type IV, Marfan syndrome, pseudoxanthoma elasticum, Rothmund-Thomson syndrome, and scleroderma have all been associated with EPS. The clinical appearance exhibits umbilicated papules arranged in a typical serpiginous pattern, usually located around the neck. Less frequently, lesions may be seen on the face, abdomen, and extremities with a symmetrical distribution, as in our case. The clinical course may be variable with a spontaneous resolution in a few months or years, but frequently new lesions develop leading to persistence and progression of the disorder. We describe a 12-year-old girl affected by Down syndrome who presented a localized form of EPS, which involved only the extremities. Strangely, it resolved spontaneously after biopsy with no recurrence, without therapy.     

Anetoderma arising in Reed syndrome: a case report and review of the literature

Anetoderma is a cutaneous disorder characterized by loss of dermal elastic tissue resulting in papules from herniation of subcutaneous tissue or circumscribed areas of atrophic, wrinkled skin. Familial leiomyomatosis cutis et uteri (Reed syndrome) is an autosomal dominant disorder characterized by cutaneous and uterine leiomyomas. We report a 23‐year‐old male with Reed syndrome who presented with asymptomatic pearly white, atrophic, flaccid papules on the upper back and shoulder that depressed when palpated. Pathologic examination showed an unremarkable epidermis and central loss of dermal elastin, bordered by clumped elastin, as revealed with an elastin stain. The correlation of clinical and pathologic findings indicated a diagnosis of anetoderma arising in a patient with Reed syndrome.     

A Case of Nodular Cystic Fat Necrosis: The End Stage Lesion Showing Calcification and Lipomembranous Changes

Nodular cystic fat necrosis, first described by Przyjemski et al. in 1978, is a distinct, benign subcutaneous lesion characterized histologically by encapsulated fat necrosis. We report a case of nodular cystic fat necrosis in a 22-year-old man who had had two mobile, rice-sized, deep-seated papules on his right shin for ten years after trauma. Histologically, the excised mass showed encapsulated fat necrosis, calcification, and lipomembranous changes. The encapsulation of necrotic tissue may prevent further extension of adiponecrosis. The subcutaneous fat is prone to trauma or ischemia. The observation of lipomembranous changes in nodular cystic fat necrosis seems to support the concept that lipomembranous change is a nonspecific pattern of the fat necrosis due to multiple local or systemic events causing a compromise in the blood supply of the subcutaneous tissue.     

Localized Ehlers-Danlos syndrome.

A 34-year-old woman had the cutaneous features of the Ehlers-Danlos syndrome, which was strictly limited to the skin and subcutaneous tissue in the region of the left shoulder. The disorder started at approximately age 22 with the development of subcutaneous nodules. Hyperextensibility of the skin in this region developed within the subsequent five years. There was a notable lack of the usually associated joint hyperextensibility, bleeding tendency, scar formation, or the serious systemic components of the Ehlers-Danlos syndrome.     

Hair Follicle Nevi and Accessory Tragi: Variable Quantity of Adipose Tissue in Connective Tissue Framework

Abstract: Controversy exists about the histologic differences between hair follicle nevi and accessory tragi. We examined 10 congenital lesions histologicaiiy, possible diagnoses of which were hair follicle nevi or accessory tragi. Two specimens out of the 10 had tiny, mature hair follicles surrounded by thick fibrous root sheaths, a few fat cells, and no cartilage. The subcutaneous fat cells of their bases were segmented by a connective tissue framework. They had histologic features of hair follicle nevi. One specimen had cartilage and abundant fat cells with a connective tissue framework in the nodule, as well as a conglomeration of numerous well-differentiated hair follicles. It possessed both elements of a hair follicle nevus and an accessory tragus. Seven specimens had abundant subcutaneous fat and showed a prominent connective tissue framework. These were typical accessory tragi. The present study suggests that the number of fat cells in the nodule or papule differs between these two conditions. All the lesions studied revealed a connective tissue framework in the subcutaneous fat. Histologic features of both hair follicle nevi and accessory tragi can coexist in a single lesion. Hair follicle nevi may represent incomplete accessory tragi with scant fat cells.     

Buschke-Ollendorff syndrome: three generations in a Japanese family

Buschke-Ollendorff syndrome is an autosomal dominant disease characterized by disseminated connective tissue nevi of elastic type and osteopoikilosis. We report a 6-year-old Japanese boy with connective tissue nevi that showed slightly grouped yellowish or skin-colored papules and nodules, distributed from birth over his right thigh, right buttock, and back. Radiologic skeletal survey revealed osteopoikilosis. A skin biopsy specimen obtained from a papule showed that collagen bundles in the dermis were thickened and homogenized. The elastic fibers were not increased but were coarse and clumped. The boy's father, at age 34, has had osteopoikilosis and similar papules and nodules on his left buttock and back for the preceding 18 years. We studied the paternal grandfather, aged 65. He had osteopoikilosis and similar skin lesions on his lumbar region. None of the three had a history of hearing loss or malignant tumor. To our knowledge, this is the first report of three generations of Buschke-Ollendorf syndrome in a Japanese family.     

Nevus lipomatosus superficialis on the face

A 17-year-old woman presented with asymptomatic, multiple plaques around the right mandibular area of the face extending from the cheek to the neck. These lesions had gradually increased in size and number for 8 years, and then were stationary. When she came to us, there were a few skin-colored or pale yellowish papules and plaques ranging from 0.2 to 1 cm in diameter (Fig. 1). The patient stated that initially the papules developed discretely, and then these papules were confluent and grouped slowly with new lesions. The most recent lesions were skin-colored papules which were soft to the touch, the older lesions were yellowish plaques with firm consistency and a smooth shiny surface. The patient's general condition had been good at the initial visit and the laboratory findings including blood cell counts, urinalysis, and routine blood chemistry tests were all within normal limits. A roentgenogram of the mandibular area did not reveal any significant findings. The presumptive clinical diagnosis of connective tissue nevus was made.
Histologic examination of biopsy specimen taken from the neck showed lobules of fat cells embedded among the collagen bundles at the level of papillary dermis and collagen bundles were proliferated irregularly (Fig. 2). The individual fat cells were mature and of normal size. The lobules were not encapsulated and did not communicate with the subcutaneous fat tissue. The epidermal changes of the lesions consisted of mild hyperkeratosis with follicular plugging and slightly increased numbers of capillaries were observed around the dermal fat cells (Fig. 3). Therefore, it was diagnosed as nevus lipomatosus superficialis (NLS) which developed multiple lesions very rarely on the face. After surgical removal of the lesion, no evidence of recurrence has been observed 1 year postoperatively.     

Buschke‐Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition

Buschke‐Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh‐colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26‐year‐old male with multiple subcutaneous nodules on the waist and thigh for more than 20 years. Being deeply seated, his skin lesions were not visible and could only be appreciated by palpation. Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the LEMD3 gene was detected, which confirmed the diagnosis of BOS. The deeply situated nature of skin lesions noted in our case has not been reported in the literature of BOS. Our case thus expands the clinical and pathological features of the disease.     

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

Immunofluorescence showed that cultured skin fibroblasts from 15 out of 17 patients with Ehlers-Danlos syndrome type IV retained abnormal amounts of type III collagen within the cytoplasm. This was not shown by fibroblasts from normal subjects or from patients with other inherited connective tissue diseases. The diagnosis of Ehlers-Danlos syndrome type IV may be facilitated by this finding.     

Defects in the biochemistry of collagen in diseases of connective tissue.

The collagens are the major structural glycoproteins of connective tissues. A unique primary structure and a multiplicity of post-translational modification reactions are required for normal fibrillogenesis. The post-translational modifications include hydroxylation of prolyl and lysyl residues, glycosylation, folding of the molecule into triple-helical conformation, proteolytic conversion of precursor procollagen to collagen, and oxidative deamination of certain lysyl and hydroxylysyl residues. Any defect in the normal mechanisms responsible for the synthesis and secretion of collagen molecules or the deposition of these molecules into extracellular fibers could result in abnormal fibrillogenesis; such defects could result in a connective tissue disease. Recently, defects in the regulation of the types of collagen synthesized and in the enzymes involved in the post-translational modifications have been found in heritable diseases of connective tissue. Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome type IV, lysyl oxidase deficency in S-linked cutis laxa and Ehlers-Danlos syndrome type V, and decreased synthesis of type I collagen in osteogenesis imperfecta.     

A case of Ehlers-Danlos syndrome occurring with Marfan's syndrome

The Ehlers-Danlos syndrome and the Marfan syndrome are well recognized inherited disorders of connective tissue. A case is reported of a young woman who showed the features of both Ehlers-Danlos and Marfan's syndrome; such a combination has previously been reported but is very rare.     

Contraction of collagen lattices by fibroblasts from patients and animals with heritable disorders of connective tissue

Fibroblasts derived from patients and animals presenting various heritable connective tissue disorders were investigated for the ability to retract a reconstituted collagen matrix. When seeded into gels, dermatosparactic calf and sheep fibroblasts did not exhibit the elongated shape of normal fibroblasts and did not contract the collagen lattice to the same extent as control fibroblasts. In contrast, several cell strains obtained from patients with Ehlers-Danlos syndrome type VII displayed contractile properties for collagen gels similar to controls. Delayed contraction was noted by two strains of fibroblasts from patients with Ehlers-Danlos syndrome type IV, whereas fibroblasts from patients with osteogenesis imperfecta, Marfan syndrome and cutis laxa had normal retraction properties.