Progeria in siblings: a rare case report

Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.     

A new variant of Vohwinkel syndrome: a case report

Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.     

Autosomal Recessive Inheritance of Erythrokeratoderma Variabilis

Abstract: Erythrokeratoderma variabilis is a rare genodermatosis conentionally regarded as autosomal dominant in inheritance. We describe the clinical features and light and electron microscopic findings in two affected siblings born to unaffected parents and suggest an autosomal recessive mode of inheritance in this famiiy. We also briefly review the literature on this disorder.     

Juvenile hyaline fibromatosis in siblings

Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile hyaline fibromatosis. The cases are being reported on account of the extreme rarity of the condition.     

Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease

Chronic granulomatous disease (CGD) is characterized by a bactericidal defect involving the oxidative metabolism of polymorphonuclear leukocytes (PML) and is most often transmitted as an X-linked trait. The cutaneous features of this disorder include infections and lupus-like rashes. These have been described in female carriers as well as in males with the disease. Two cases of siblings presenting an autosomal form of CGD syndrome, with lupus-like cutaneous manifestations, are reported here.     

Progeria (Hutchinson-Gilford): a case report.

A new case with the typical features of progeria (Hutchinson-Gilford) occurred in India. Histopathology of the skin showed atrophic epidermis and diffuse fibrosis of dermis with loss of appendages. Roentgenographic findings were characteristic of progeria. The child also had a gangrenous ulcer over the left foot, a finding not highlighted in the literature.     

GAPO Syndrome: A Report of Two Siblings and a Review of Literature

Abstract: Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.     

Lipoid proteinosis: report of four siblings and brief review of the literature

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.     

Rothmund-Thomson Syndrome in Two Siblings

Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.     

Monilethrix

Monilethrix is rare hereditary disorder which is in herited as autosomal dominant trit. We report two siblings with a combination of monilethrix and leukonychia.     

Sjögren-Larsson Syndrome: Case Reports

Abstract: Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia, and mental retardation. An enzymatic defect in fatty alcohol oxidation recently was identified and is thought to be responsible for the disorder. We report two siblings with SLS. In addition to the typical features of the syndrome, the sister had marked hyperkeratosis of the palms and soles, which is rarely seen to this degree. The brother had joint hyperextensibility, which has not been reported previously. Both individuals had documented deficient activity of fatty alcohol:NAD+ oxidoreductase.     

Trichorhinophalangeal syndrome,type II (Langer-Giedion syndrome)

Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). TRPSII can be distinguished from TRPSI when multiple exostoses or redundant skin are present. While TRPSI is inherited in an autosomal dominant fashion, most cases of TRPSII are sporadic although there are a few cases which are familial. The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient's two siblings.     

Congenital erythropoietic porphyria in three siblings

Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis.     

Corneal lesions in ichthyosis]

Corneal lesions in ichthyosis, here combined with alopecia, are rarely described in the literature. The present observation relates to two sisters, whose grandparents were siblings. The mode of inheritance is autosomal recessive, as is usual in ichthyosis congenita but is also observed in ichthyosis vulgaris. The clinical picture and the histological findings correspond to ichthyosis vulgaris.     

Xeroderma pigmentosa in siblings: cystosarcoma phylloides in a case of xeroderma pigmentosa

Xeroderma pigmentosa is a rare autosomal recessive disorder with numerous oculocutaneous neoplasms, neurological abnormalities and extremely rarely associated with neoplasms of organs other than the skin and the eyes. Here we report two cases of xeroderma pigmentosa with numerous oculocutaneous malignancies in siblings born to a consanguinously married normal parents. One of these patients had a cystosarcoma phylloides in association with xeroderma pigmentosa, hitherto not reported in literature.     

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism

We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. Osteoma cutis can manifest as an isolated skin disease, a secondary condition to other skin diseases (such as acne), or in association with several syndromes, including AHO, which in turn may be associated with PTH resistance. The management and prognosis of patients diagnosed with osteoma cutis is determined by whether the skin manifestation has occurred in isolation, in association with a syndrome, or as a secondary skin disease. These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease.     

Congenital erythropoietic porphyria in two siblings

Congenital erythropoietic porphyria is a very rare autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthetase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity. Two male siblings, aged 43 and 29, are described. The oldest shows severe sclerodermiform mutilation and the youngest exhibits initial involvement with hypertrichosis. Laboratory investigation shows polycythemia, increased urine uroporphyrins and coproporphyrins and increased erythrocyte porphyrins.     

Hutchinson–Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report

Hutchinson–Gilford progeria syndrome is a rare genetic disorder characterized by premature aging of the skin, bones, heart, and blood vessels. We report a 6‐year‐old boy who was born at full term but presented with scleroderma‐like appearance at 1 month of age and gradually developed clinical manifestations of progeria. He had characteristic facial features of prominent eyes, scalp, and leg veins; loss of scalp hair, eyebrows, and eyelashes; stunted growth; scleroderma‐like changes of the skin; and a premature aged appearance. Metabolic investigations showed transient methylmalonic aciduria, and genetic testing of the peripheral blood identified the c.1824C>T heterozygous LMNA mutation. The present case is reported because of its rarity.     

Aplasia cutis congenita in two siblings

We report on two siblings with aplasia cutis congenita (ACC). This rare congenital malformation is characterized by a local defect of epidermis, dermis, and subcutaneous tissues occurring predominantly on the vertex of the scalp. Patient A (a boy) was born with a parietooccipital 4 x 4 cm scalp defect, that healed under conservative treatment with scar formation within three months. At the age of three years we started with serial excisions of the affected area. In patient B (a girl) two 1.5 x 1.5 cm midline scalp defects were noted at birth. After primary conservative treatment we performed an excision at the age of three years. Both children were born at term following normal pregnancy and delivery. Neither physical nor psychomotor retardation nor any other associated abnormality was found in these cases. Two younger brothers were born without any skin defects or other anomalies. There is no unifying theory on the pathogenesis of ACC. Traumatic, vascular, teratogenic, and genetic factors are discussed as initial steps in etiopathogenesis. In this family the occurrence of ACC in two siblings of either sex, with unaffected parents, may suggest an autosomal recessive mode of transmission. However autosomal dominant inheritance with germline mosaicism in one parent can not be excluded.     

Three unusual siblings with Harlequin icthyosis in an Indian family

Harlequin fetuses occurring as three siblings in an Indian family are described here. All three were preterm, low birth weight, and did not survive.There was no history of consanguinous marriage in the parents or in the family. Thus autosomal recessive inheritance appears to be a remote possibility, although not impossible or, as recently described, these recurrent harlequin fetuses could be the result of new dominant mutations with parental mosaicism.